Jaakko Perheentupa

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Jaakko Perheentupa

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Philosophy

Jaakko Perheentupa's Degrees

PhD Medical Sciences University of Helsinki
Doctorate Medicine University of Helsinki

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Jaakko Perheentupa's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains (1997) (1144)
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. (1990) (961)
Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines (2010) (551)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. (2006) (395)
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21 (1994) (362)
Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1 (2006) (360)
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. (2000) (348)
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I (2009) (304)
Hereditary diseases in Finland; rare flora in rare soul. (1973) (285)
FRUCTOSE-INDUCED HYPERURICÆMIA (1967) (283)
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (2008) (247)
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. (2004) (230)
APS-I/APECED: the clinical disease and therapy. (2002) (220)
A Defect of Regulatory T Cells in Patients with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy1 (2007) (207)
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. (2002) (190)
Identification of tryptophan hydroxylase as an intestinal autoantigen (1998) (190)
Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. (1994) (185)
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. (2015) (182)
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism (2000) (173)
A Novel Format for a Growth Chart (1984) (173)
Variation of Growth in Height and Weight of Children II. After Infancy (1990) (167)
Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure. (1987) (165)
Exclusively Breast-Fed Healthy Infants Grow Slower than Reference Infants (1985) (163)
Fructose-induced hyperuricaemia. (1967) (162)
Oral and oesophageal squamous cell carcinoma--a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I). (2007) (157)
Exclusive breast-feeding for 9 months: risk of iron deficiency. (1984) (148)
The Transcription Factors SOX9 and SOX10 Are Vitiligo Autoantigens in Autoimmune Polyendocrine Syndrome Type I* (2001) (138)
Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. (1996) (136)
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. (1997) (132)
Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. (1977) (123)
Genetic homogeneity of autoimmune polyglandular disease type I. (1996) (119)
Congenital chloride diarrhea. (1982) (115)
Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism. (1965) (112)
Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. (2001) (108)
Colonic electrolyte transport in health and in congenital chloride diarrhea. (1975) (106)
Selenium status of exclusively breast-fed infants as influenced by maternal organic or inorganic selenium supplementation. (1985) (106)
Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. (2000) (103)
Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes (2008) (100)
The parotid gland is the main source of human salivary epidermal growth factor. (1988) (97)
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1 (2007) (92)
Lysinuric protein intolerance. (1975) (91)
Glutamate Decarboxylase–Reactive Peripheral Blood Lymphocytes From Patients With IDDM Express Gut-Specific Homing Receptor α4β7-Integrin (1997) (88)
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen (2009) (88)
Low Colostral IgA Associated with Cow's Milk Allergy (1991) (87)
ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. (2000) (85)
The expression of autoimmune polyglandular disease type I appears associated with several HLA-A antigens but not with HLA-DR. (1988) (85)
Autoimmune polyendocrinopathy--candidiasis--ectodermal dystrophy (APECED). (1996) (84)
Congenital chloride diarrhea, an autosomal recessive disease (1971) (83)
Risk Factors for Infantile Recurrent Otitis Media: Atopy but Not Type of Feeding (1988) (81)
BPIFB1 Is a Lung-Specific Autoantigen Associated with Interstitial Lung Disease (2013) (80)
BENIGN PREMATURE ADRENARCHE: CLINICAL FEATURES AND SERUM STEROID LEVELS (1983) (80)
Prolonged exclusive breast feeding and heredity as determinants in infantile atopy. (1987) (78)
Exclusive breast-feeding and weaning: effect on serum cholesterol and lipoprotein concentrations in infants during the first year of life. (1992) (77)
Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3(+) precursors and impaired activated population. (2010) (76)
Mulibrey nanism: clinical features and diagnostic criteria (2004) (76)
Detection of candidal antigens in autoimmune polyglandular syndrome type I (1996) (72)
The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex. (2003) (70)
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. (1973) (70)
Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. (2008) (70)
Size heterogeneity of epidermal growth factor in human body fluids. (1987) (70)
Epidermal growth factor is a constant component of normal human tear fluid (2005) (68)
Familial Protein Intolerance with Deficient Transport of Basic Amino Acids: An Analysis of 10 Patients (1967) (68)
BASOLATERAL-MEMBRANE TRANSPORT DEFECT FOR LYSINE IN LYSINURIC PROTEIN INTOLERANCE (1980) (67)
Comparison of virulence factors of oral Candida dubliniensis and Candida albicans isolates in healthy people and patients with chronic candidosis. (2000) (66)
Congenital Na+ diarrhea: a new type of secretory diarrhea. (1985) (66)
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. (1980) (66)
Pulsatile Secretion of LH and FSH in Prepubertal and Early Pubertal Boys Revealed by Ultrasensitive Time-Resolved Immunofluorometric Assays (1990) (65)
Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. (1980) (64)
Epidermal growth factor in human urine from birth to puberty. (1985) (64)
GROWTH IN TURNER'S SYNDROME: SPONTANEOUS AND FLUOXYMESTERONE STIMULATED (1979) (63)
Formula feeding results in lower selenium status than breast-feeding or selenium supplemented formula feeding: a longitudinal study. (1987) (62)
Gonadal control of pulsatile secretion of luteinizing hormone and follicle-stimulating hormone in prepubertal boys evaluated by ultrasensitive time-resolved immunofluorometric assays. (1990) (61)
Variation of Growth in Length and Weight of Children I. Years 1 and 2 (1990) (60)
Plasma Antibodies to Cow's Milk Are Increased by Early Weaning and Consumption of Unmodified Milk, but Production of Plasma IgA and IgM Cow's Milk Antibodies Is Stimulated Even during Exclusive Breast‐Feeding (1988) (59)
Anti-Cytokine Autoantibodies Preceding Onset of Autoimmune Polyendocrine Syndrome Type I Features in Early Childhood (2013) (59)
Transglutaminase 4 as a prostate autoantigen in male subfertility (2015) (59)
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. (1981) (58)
High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. (1997) (58)
AIRE regulates T-cell-independent B-cell responses through BAFF (2008) (57)
Cholesterol and its precursors in human milk during prolonged exclusive breast-feeding. (1989) (57)
Mulibrey Heart Disease: Clinical Manifestations, Long-Term Course, and Results of Pericardiectomy in a Series of 49 Patients Born Before 1985 (2003) (56)
Cytoskeleton-dependent release of human platelet epidermal growth factor. (1991) (56)
Growth evaluation: parent and child specific height standards. (1989) (56)
Subnormal concentrations of urinary epidermal growth factor in patients with kidney disease. (1986) (56)
Growth in Cartilage-Hair Hypoplasia (1992) (55)
Hypertensive angiopathy in familial chloride diarrhea. (1966) (55)
Decreased susceptibility of Candida albicans to azole antifungals: a complication of long-term treatment in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients. (2007) (54)
Characterization of material with epidermal growth factor immunoreactivity in human serum and platelets. (1989) (54)
Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. (1999) (53)
Histidine decarboxylase, a pyridoxal phosphate-dependent enzyme, is an autoantigen of gastric enterochromaffin-like cells. (2003) (53)
Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism. (1978) (53)
The renal lesion in congenital chloride diarrhea. (1977) (53)
Hormonal modulation of mouse plasma concentration of epidermal growth factor. (1984) (53)
Follow up of growth and steroids in premature adrenarche (1995) (52)
Fundamental voice frequence during normal and abnormal growth, and after androgen treatment. (1978) (52)
Supplementation with human milk protein improves growth of small premature infants fed human milk. (1986) (50)
Urine and Kidney Epidermal Growth Factor: Ontogeny and Sex Difference in the Mouse (1985) (50)
Subnormal pubertal increases of serum androgens in Turner's syndrome. (1982) (50)
Kidney biopsy findings in familial chloride diarrhoea. (1967) (50)
Tracking of serum cholesterol and lipoprotein levels from the first year of life. (1993) (47)
Cellular and Humoral Immunity in Cartilage-Hair Hypoplasia (1978) (46)
Increased IL‐17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model (2011) (46)
Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. (1973) (44)
ASSOCIATION OF POSTMEDICATION HYPOCORTISOLISM WITH EARLY FIRST RELAPSE OF IDIOPATHIC NEPHROTIC SYNDROME (1977) (42)
Increased rate of salivary epidermal growth factor secretion in patients with juvenile periodontitis. (1993) (42)
Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline. (1980) (42)
Effects of Feeding Regimen on Blood Glucose Levels and Plasma Concentrations of Pancreatic Hormones and Gut Regulatory Peptides at 9 Months of Age: Comparison Between Infants Fed with Milk Formula and Infants Exclusively Breast‐Fed from Birth (1988) (41)
Reduction of fluconazole susceptibility of Candida albicans in APECED patients due to long-term use of ketoconazole and miconazole (2008) (41)
Effects of epidermal growth factor on bone formation and resorption in vivo. (1990) (40)
Epidermal growth factor measurements in mouse plasma: method, ontogeny, and sex difference. (1985) (40)
Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I. (2000) (40)
Single versus repeated dose human chorionic gonadotropin stimulation in the differential diagnosis of hypogonadotropic hypogonadism. (1985) (40)
Human epidermal growth factor: renal production and absence from plasma (1988) (40)
Two-hour Adrenocorticotropic Hormone Test: Accuracy in the Evaluation of the Hypothalamic- Pituitary-Adrenocortical Axis (1978) (39)
STEROIDOGENIC RESPONSE TO A SINGLE INJECTION OF hCG IN PRE‐ AND EARLY PUBERTAL CRYPTORCHID BOYS (1983) (39)
Plasma and Urinary Steroids in an Eight-Year-Old Boy with 3β-Hydroxysteroid Dehydrogenase Deficiency (1970) (39)
GnRH and HCG tests are both necessary in differential diagnosis of male delayed puberty. (1985) (39)
Ocular disease leads to decreased concentrations of epidermal growth factor in the tear fluid. (1991) (39)
Low Zinc Intake During Exclusive Breast‐Feeding Does Not Impair Growth (1994) (39)
52. MULIBREY‐NANISM: DWARFISM WITH MUSCLE, LIVER, BRAIN AND EYE INVOLVEMENT (1970) (38)
Characterization of adrenal autoantigens recognized by sera from patients with autoimmune polyglandular syndrome (APS) type I. (1994) (38)
West syndrome: individualized ACTH therapy (1996) (38)
Renal handling of diamino acids in lysinuric protein intolerance. (1974) (37)
Aetiology of Congenital Hypothyroidism in Finland (1989) (37)
Cu nutrition in infants during prolonged exclusive breast-feeding: low intake but rising serum concentrations of Cu and ceruloplasmin. (1986) (37)
Copper supplementation: failure to increase plasma copper and ceruloplasmin concentrations in healthy infants. (1989) (37)
Transient Increase in Postnatal Testicular Activity Is Not Revealed by Longitudinal Measurements of Salivary Testosterone (1986) (35)
IL-7 Dysregulation and Loss of CD8+ T Cell Homeostasis in the Monogenic Human Disease Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (2011) (35)
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. (1997) (34)
Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis. (2008) (34)
Epidermal growth factor in mouse urine: non-blood origin, and increase by sialoadenectomy and T4 therapy. (1985) (33)
Folate Nutrition is Optimal in Exclusively Breast‐Fed Infants but Inadequate in Some of Their Mothers and in Formula‐Fed Infants (1986) (33)
Treatment with human chorionic gonadotrophin for cryptorchidism: clinical and histological effects. (1996) (32)
Adrenocortical hyporesponsiveness after treatment with ACTH of infantile spasms. (1986) (32)
Serum cholesterol and lipoprotein concentrations in mothers during and after prolonged exclusive lactation. (1992) (32)
DISACCHARIDASES OF INTESTINAL MUCOSA IN A PATIENT WITH SUCROSE INTOLERANCE. (1964) (32)
The cardiopathy of mulibrey nanism, a new inherited syndrome. (1974) (31)
Apoprotein E phenotype determines serum cholesterol in infants during both high-cholesterol breast feeding and low-cholesterol formula feeding. (1997) (31)
Growth failure from symptomless celiac disease. A study of 14 patients. (1978) (31)
Glutamate decarboxylase-reactive peripheral blood lymphocytes from patients with IDDM express gut-specific homing receptor alpha4beta7-integrin. (1997) (31)
Type 1 autoimmune polyglandular disease. (1999) (30)
Autoimmune Polyglandular Disease Type I (1993) (30)
Kinetics of the Steroidogenic Response to Single versus Repeated Doses of Human Chorionic Gonadotropin in Boys in Prepuberty and Early Puberty (1985) (30)
EGF- and TGF-α-Like Peptides in Human Fetal Gut (1989) (29)
PLASMA PREGNENOLONE, PROGESTERONE, 17‐HYDROXYPROGESTERONE, TESTOSTERONE AND 5α‐DIHYDROTESTOSTERONE IN DIFFERENT TYPES OF CONGENITAL ADRENAL HYPERPLASIA (1975) (28)
An ultrasensitive time-resolved immunofluorometric assay of human epidermal growth factor. (1986) (28)
Disturbed calcium and phosphate homeostasis during treatment with ACTH of infantile spasms. (1986) (28)
Gonadotropin-releasing hormone test and human chorionic gonadotropin test in the diagnosis of gonadotropin deficiency in prepubertal boys. (1985) (28)
Lysinuric protein intolerance, an autosomal recessive disease (1971) (27)
Risk of low vitamin B6 status in infants breast-fed exclusively beyond six months. (1996) (27)
Urinary epidermal growth factor concentrations in various human malignancies. (1988) (27)
CONGENITAL HYPOTHYROIDISM: AGE AT START OF TREATMENT VERSUS OUTCOME (1983) (27)
Enzymes of Urea Synthesis in Familial Protein Intolerance with Deficient Transport of Basic Amino Acids (1967) (26)
Craniopharyngioma surgery in children: endocrine and visual outcome (1988) (25)
Epidermal Growth Factor Stimulates Prostacyclin Production by Cultured Human Vascular Endothelial Cells (1988) (25)
Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I. (2008) (25)
Epidermal Growth Factor in Mouse Ocular Tissue: Effects of Thyroxine and Exogenous Epidermal Growth Factor (1985) (24)
Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) (2000) (24)
The Diagnosis and Staging of Hypocortisolism in Progressing Autoimmune Adrenalitis (1983) (23)
Multivariate Analysis of Psychomotor Development in Congenital Hypothyroidism (1989) (23)
Dental maturity in hypopituitarism, and dental response to substitution treatment. (1978) (23)
Epidermal Growth Factor in Neonatal Mouse Urine: Maturative Effect of Thyroxine (1984) (23)
Testicular endocrine function in a pubertal boy with 3beta-hydroxysteroid dehydrogenase deficiency. (1974) (23)
Histochemical and biochemical study of hereditary fibrous hyperplasia of the gingiva. (1982) (22)
TSGA10 – A Target for Autoantibodies in Autoimmune Polyendocrine Syndrome Type 1 and Systemic Lupus Erythematosus (2011) (22)
Autoantibodies in autoimmune polyglandular syndrome type I patients react with major brain neurotransmitter systems (2009) (22)
56. Familial Chloride Diarrhoea (“Congenital Alkalosis with Diarrhoea”) (1965) (22)
Familial chloride diarrhea-chloride malabsorption. (1968) (22)
Idiopathic nephrotic syndrome: prevention of early relapse. (1978) (22)
Bone Age at Birth; Method and Effect of Hypothyroidism (1989) (21)
Pituitary autoantibodies in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). (2007) (21)
LYSINURIC PROTEIN INTOLERANCE (1980) (21)
Zinc supplementation of infant formula. (1994) (20)
EGF- and TGF-alpha-like peptides in human fetal gut. (1989) (20)
Low Vitamin B6 Status Associated with Slow Growth in Healthy Breast-Fed Infants (1995) (20)
“BASOLATERAL” AND MITOCHONDRIAL MEMBRANE TRANSPORT DEFECT IN THE HEPATOCYTES IN LYSINURIC PROTEIN INTOLERANCE (1983) (19)
Analysis of antibody reactivity against cysteine sulfinic acid decarboxylase, a pyridoxal phosphate-dependent enzyme, in endocrine autoimmune disease. (2004) (18)
Bile acids and hormonal steroids in bile of a boy with 3β-hydroxysteroid dehydrogenase deficiency (1972) (18)
Plasmin and epidermal growth factor in the tear fluid of contact-lens wearers: effect of wearing different types of contact lenses and association with clinical findings. (1990) (18)
The Apolipoprotein E Phenotype Has a Strong Influence on Tracking of Serum Cholesterol and Lipoprotein Levels in Children: A Follow-Up Study from Birth to the Age of 11 Years (1998) (18)
Congenital adrenal hyperplasia. Plasma and urinary steroid conjugates in seven children with steroid 21-hydroxylase deficiency. (1973) (18)
Effects of estradiol and progesterone on epidermal growth factor concentration in plasma, bile, urine, submandibular gland and kidney of the mouse. (1989) (18)
Estrogen-androgen antagonism in the regulation of epidermal growth factor in mouse submandibular salivary gland and kidneys. (1990) (18)
GONADOTROPHIN TEST OF THE FUNCTIONAL CAPACITY OF LEYDIG CELLS IN NORMAL AND HYPOGONADAL BOYS (1972) (17)
Urinary cyclic adenosine monophosphate excretion in diabetes insipidus of childhood. Effect of vasopressin and chlorpropamide. (1974) (17)
Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance. (1974) (17)
Oral administration of ∈N-acetyllysine and homocitrulline in lysinuric protein intolerance (1983) (17)
CHANGES IN PERIPHERAL BLOOD CELLS AND SERUM FERRITIN IN LYSINURIC PROTEIN INTOLERANCE (1980) (17)
Hereditary fructose intolerance. A clinical study of four cases. (1962) (17)
Epidermal growth factor in mice: effects of estradiol, testosterone and dexamethasone. (1990) (16)
Oestrogen Treatment of Tall Girls: Effect Decreases with Age (1991) (16)
Biotin concentrations in maternal plasma and milk during prolonged lactation. (1985) (16)
Prolonged Exclusive Breast‐Feeding Results in Low Serum Concentrations of Immunoglobulin G, A and M (1987) (16)
Acquisition of urine, kidney and submandibular gland epidermal growth factor responsiveness to thyroxine administration in neonatal mice. (1985) (16)
ACCELERATION OF DELAYED GROWTH WITH FLUOXYMESTERONE (1982) (16)
Risk of autoimmune diabetes in APECED: association with short alleles of the 5′insulin VNTR (2010) (15)
The efficacy of grwoth hormone in different types of growth failure (1982) (15)
gammadelta T cells develop independently of Aire. (2009) (15)
Aldolase activities in the liver in parents of patients with hereditary fructose intolerance (1967) (15)
Epidermal growth factor in human tear fluid: A minireview (1991) (14)
Human epidermal growth factor concentrations in urine, but not in saliva and serum, depend on thyroid state. (1987) (14)
Epitope mapping of cytochrome P450 cholesterol side-chain cleavage enzyme by sera from patients with autoimmune polyglandular syndrome type 1. (2002) (14)
MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17‐KETOSTEROID REDUCTASE (1983) (14)
Plasma and urinary androgens and oestrogens in a pubertal boy with 3 beta-hydroxysteroid dehydrogenase deficiency. (1980) (14)
Finnish national screening for hypothyroidism (1984) (14)
Reference ranges for erythrocyte pyridoxal 5'-phosphate concentration and the erythrocyte aspartate transaminase stimulation test in lactating mothers and their infants. (1994) (14)
Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED)--a diagnostic and therapeutic challenge. (2009) (13)
Precocious Puberty Associated with Oral‐Facial‐Digital Syndrome Type I (1986) (13)
Insulin test: precisions of and correlations between glucose and hormone responses. (1978) (13)
Autoantibodies Targeting a Collecting Duct-Specific Water Channel in Tubulointerstitial Nephritis. (2016) (13)
GROWTH FAILURE FROM SYMPTOMLESS COELIAC DISEASE (1975) (13)
Levels of IgA and cow milk antibodies in breast milk vs. the development of atopy in children. Low colostral IgA associated with cow milk allergy. (1991) (13)
Craniofacial and dental study of mulibrey nanism. (1978) (12)
Infant vitamin B-6 status changes with age and with formula feeding. (1994) (12)
Postoperative computed tomographic control of 38 patients with craniopharyngioma. (1988) (12)
Turner Syndrome: Effect of Hormone Therapies on Height Velocity and Adult Height (1988) (11)
Inappropriate secretion of antiduretic hormone, hypertension, and hypoplastic corpus callosum. (1977) (11)
Growth hormone increases neonatal mouse urine epidermal growth factor. (1984) (11)
EXTENSIVE CLINICAL EXPERIENCE Autoimmune Polyendocrinopathy-Candidiasis- Ectodermal Dystrophy (2006) (10)
Non-esterified fatty acids and fatty liver in hereditary fructose intolerance. (1962) (10)
Precipitating anti-adrenal antibodies in Addison's disease. (1974) (10)
Ketoconazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED). (2009) (9)
MULIBREY NANISM, AN AUTOSOMAL RECESSIVE SYNDROME WITH OCULAR INVOLVEMENT (1982) (9)
Responsiveness of the Pituitary-Testicular Axis to Gonadotropin-releasing Hormone and Chorionic Gonadotropin during the First Week of Life (1984) (9)
GAD reactive lymphocytes from patients with insulin-dependent diabetes mellitus express a gut-specific homing receptor alpha4beta7 integrin (1997) (9)
Hereditary fructose intolerance. (2009) (9)
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. (1975) (9)
Vitamin B-6 status during childhood: tracking from 2 months to 11 years of age. (1995) (9)
Recombinant somatropin in treatment of growth hormone deficient children in Sweden and Finland. (1988) (9)
Types of Fluid Disorder in Children with Bacterial Meningitis (1991) (8)
Oral administration of urea cycle intermediates in lysinuric protein intolerance: effect on plasma and urinary arginine and ornithine. (1983) (8)
Acquisition of submandibular gland nerve growth factor (SMG‐NGF) responsiveness to thyroxine administration in neonatal mice (1984) (8)
The Finnish disease heritage: a personal look (1995) (8)
SYMPTOMLESS HEREDITARY FRUCTOSE INTOLERANCE (1962) (8)
Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. (1974) (8)
Epidermal growth factor in mice: changes during circadian and female reproductive cycles. (1990) (8)
Characterization of the humoral immune response to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and/or type 1 diabetes. (2005) (8)
Hormonal background of the hypertension and fluid derangements associated with adrenocorticotrophic hormone treatment of infants (1989) (8)
Studies on Combined Adsorbed Poliomyelitis‐DTP Vaccine: Poliomyelitis Antibody Responses of Children to Primary Immunization (1962) (7)
The effect of ACTH therapy on serum dehydroepiandrosterone, androstenedione, testosterone and 5 alpha-dihydrotestosterone in infants. (1987) (7)
Mouse epidermal growth factor concentrations are altered by gonadectomy and treatments with estradiol and progesterone. (1989) (7)
Critical evaluation of the 5-day metyrapone test. (1977) (7)
6. HORMONAL TREATMENT OF TURNER'S SYNDROME (1975) (7)
Letter: Mulibrey nanism v. hereditary congenital dwarfism with pericardial constriction. (1973) (7)
Electrolyte transport by bullfrog colon in vitro. (1972) (7)
Serum Steroids and Success of Corticotropin Therapy in Infantile Spasms (1986) (7)
[Evaluation of childhood growth]. (1985) (7)
Leukocyte and Liver Glutaminase in Lysinuric Protein Intolerance (1972) (7)
Bone health in autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED): findings in 25 adults (2006) (6)
Vasopressin test: diagnostic inaccuracy in evaluation of hypothalamic-pituitary-adrenocortical axis. (1978) (6)
Effect of heredity on hemoglobin concentration. (1994) (6)
Autoimmune polyendocrinopathy-candidosis syndrome (APECS): Clinical variation, inheritance and HLA association in 40 Finnish patients (1978) (6)
Candida albicans isolates from APECED patients show decreased susceptibility to miconazole. (2009) (6)
[Hereditary diseases in Finland--from the clinician's and scientist's point of view]. (1972) (6)
Aspartylglycosaminuria: a gargoyle-like syndrome with autosomal recessive inheritance. (1974) (6)
Growth in Cushing syndrome (1985) (5)
Gonadotropin-Releasing Hormone Test and Human Chorionic Gonadotropin Test in the Diagnosis of Gonadotropin Deficiency in Prepubertal Boys (1986) (5)
Association of precipitating anti-adrenal anti-adrenal antibodies with moniliasis-polyendocrinopathy syndrome. (1976) (4)
Craniofacial and dental characteristics of cartilage-hair hypoplasia. (1978) (4)
Renal handling of citrulline in lysinuric protein intolerance (LPI). evidence for “metabolic run-out” (1980) (4)
Neonatal Hyperthyroidism in Mice Has Different Effects on Epidermal Growth Factor Levels in Submandibular Gland, Urine, and Blood (1986) (4)
Hypergonadotropic Hypogonadism in Newborn Males with Primary Testicular Failure (1984) (4)
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1 (2017) (4)
Serum protein turnover in the congenital nephrotic syndrome. Experimental studies with 3H-tyrosine and 131-I-proteins. (1966) (4)
Chronic Diarrhea and Alkalosis (1965) (4)
[A recurrence of rickets--prevalence, diagnosis and treatment]. (1995) (4)
Multiple enzyme deficiency with fasting hypoglycemia. A case of glycogen storage disease. (1962) (3)
Plasma and urinary steroids in an eight-year-old boy with 3-beta-hydxysteroid dehydrogenase deficiency. (1970) (3)
Human milk stimulates prostacyclin production by cultured human vascular endothelial cells. (1991) (3)
Blood Cell Polyamines in Children with Short Stature in Reference to Growth Hormone Activity (1980) (3)
Increase in thyroxine-binding globulin (TBG) in lysinuric protein intolerance. (1981) (3)
20. MOTHERS OF INFANTS WITH COW'S MILK ALLERGY VS. CONTROLS HAVE LESS IgA ANTIBODIES TO COW'S MILK PROTEIN IN MILK AND PLASMA (1987) (3)
[Assignment of sex?]. (1971) (3)
Craniopharyngioma in adults. (1987) (3)
Five different cytochromes P450 are hepatic autoantigens in finish patients with Autoimmune Polyglandular Syndrome Type 1 (APS1) (1996) (3)
Lysinuric protein intolerance ( LPI ): treatment with citrulline and lysine (1979) (3)
Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance. (1983) (3)
Biochemical study of two cases of fructose intolerance. (1962) (2)
EFFECT OF HGH TREATMENT ON GROWTH OF NON-GH-DEFICIENT SHORT CHILDREN (1975) (2)
7. PREVENTION OF EXCESSIVE TALLNESS IN GIRLS (1975) (2)
POLYHYDRIC ALCOHOLS IN HUMAN URINE. (1964) (2)
Patients with acromegaly come from tall families. (1986) (2)
Urinary cyclic adenosine 3',5'-monophosphate excretion in children in short stature: effect of somatotropin. (1977) (2)
Significance of steroid cell autoantibodies (SCA) in patients with APECED (autoimmune polyendocrinopathy -candidosis – ectodermal dystrophy) (1984) (1)
LOW DOSE TESTOSTERONE TREATMENT OF DELAYED GROWTH (1988) (1)
98: Voice frequency during normal and retarded growth, and during androgen treatment (1976) (1)
Hepatic autoantigens in the autoimmune polyglandular syndrome type 1 and autoimmune hepatitis type 2 (1998) (1)
[3 hereditary growth disorders]. (1972) (1)
Metacarpophalangeal pattern profile in mulibrey nanism and in russell silver dwarfism (1985) (1)
[Health of Finnish children and adolescents]. (1997) (1)
Hyperlysinemia with hyperammonemia and homocitrullinuria: 51 (1980) (1)
Management of newborns with ambiguous genitalia. (1980) (1)
SERUM GLYCOPROTEINS AND BLOOD EXCHANGE TRANSFUSION IN NEWBORNS WITH HAEMOLYTIC DISEASE. (1964) (1)
Epidermal growth factor is resistant to plasmin (1990) (1)
Prostaglandin synthetase inhibitors in congenital chloride diarrhoea. (1982) (1)
IMMUNOLOGICAL INCOMPETENCE IN CARTILAGE-HAIR HYPOPLASIA (1974) (1)
Epitope mapping of human aromatic L-amino acid decarboxylase. (2007) (1)
Reduced urinary epidermal growth factor levels in Snell dwarf mutant mice. (1986) (1)
A COMPARATIVE STUDY ON THE INSULIN DOSAGE IN THE TREATMENT OF DIABETIC KETOACIDOSIS IN CHILDREN (1975) (1)
Transport of homoarginine into liver slices of patients with lysinuric protein intolerance (LPI) (1974) (1)
GnRH and HCG Tests are Both Necessary in Differential Diagnosis of Male Delayed Puberty (1985) (1)
[A biochemical investigation on 2 cases of fructose intolerance]. (1962) (1)
Treatment of patients with gyrate atrophy of the choroid and retina with hyperornithinemia (GA) with creatine, a clinical trial (1980) (1)
EFFECTS OF NEONATAL HYPERTHYROIDISM ON SOMATIC GROWTH AND ON SUBMANDIBULAR GLAND AND SERUM-EPIDERMAL GROWTH FACTOR CONCENTRATION IN ONE MONTH OLD MICE (1984) (1)
Changes in the content of intermediate products of carbohydrate metabolism in the liver of the rat produced by fructose in vivo and in vitro. (1962) (1)
ANDROGEN AND ESTROGEN TREATMENT IN TURNER'S SYNDROME (1975) (0)
161 OPPOSITE EFFFECT OF PROTEIN KINASE C ACTIVATION ON STEROIDOGENIC ENZYME GENE EXPERESSION IN HUMAN CHORIO-CARCINOMA CELLS AND IN ADERNOCORTICAL CELLS (1988) (0)
Function tests: determination of precision and criteria of response, and comparison between different tests (1978) (0)
The Renal Lesion in Congenital Chloride Diarrhea (CCD) (1974) (0)
[Neonatal hypoglycemia]. (1966) (0)
Orotic aciduria, an indicator of adequacy of treatment in lysinuric protein intolerance (LPI): 76 (1980) (0)
CARTILAGE-HAIR HYPOPLASIA - A COMMON FORM OF DWARFISM IN FINLAND (1974) (0)
Single vs. repeated doses of hCG in the differential diagnosis of hypogonadotropic hypogonadism (1984) (0)
[2 categories of hereditary adrenal cortex hypofunction]. (1972) (0)
[On changes caused by fructose in the intermediate sugar content of the liver in the rat in vivo and in vitro]. (1962) (0)
GONADAL CONTROL OF PULSATILE SECRETION OF LB AND FSB IN PREPUBERTAL BOYS (1988) (0)
[From symptoms to syndromes. Table of hereditary diseases arranged according to symptoms]. (1972) (0)
LINKAGE ANALYSES TO ASSIGN THE LOCUS FOR AUTOIMMUNE POLYGLANDULAR DISEASE TYPE I (1993) (0)
VASOPRESSIN TEST: DIAGNOSTIC INACCURACY (2008) (0)
SERUM GLYCOPROTEINS IN JAUNDICE OF EARLY INFANCY. II. HAEMOLYTIC DISEASE OF THE NEWBORN. (1963) (0)
Proceedings: Hormonal treatment of Turner's syndrome. (1975) (0)
LKM autoantibodies in autoimmune hepatitis, APS1 and chronic hepatitis C: quantification of anti-CYP2D6 autoantibodies with 35S-labeled recombinant protein and comparison of target proteins (1998) (0)
Session VIII. Growth Hormone Deficiency in Adults. Diabetes Mellitus. Tall Stature (1991) (0)
[Diagnosis of growth hormone and ACTH deficiency in children]. (1975) (0)
Plasma amino acids in healthy newborns after a feed of breast milk or formula: 75 (1980) (0)
EPIDERMAL GROWTH FACTOR (ECF) IN HUMAN BODY FLUIDS (1986) (0)
Hormonal treatment of Turners syndrome. (1975) (0)
SERUM GLYCOPROTEINS IN JAUNDICE OF EARLY INFANCY. III. NONHAEMOLYTIC CONDITIONS WITH REFERENCE TO DIFFERENTIAL DIAGNOSIS OF OBSTRUCTIVE JAUNDICE. (1963) (0)
Type 1 Diabetes in Autoimmune Syndromes (2003) (0)
DystrophyPolyendocrinopathy-Candidiasis-Ectodermalwith Autoimmune A Defect of Regulatory T Cells in Patients (2006) (0)
Genetic Homogeneity of Autoimmune Polyglandular Disease (2007) (0)
CONGENITAL CHLORIDE DIARRHEA /CCD/, CLINICAL EXPERIENCE WITH 21 CASES (1975) (0)
Exclusive breast-feeding for 9 iron deficiency months." Risk of (1984) (0)
[Should we stop using the phrase "doctor's order"?]. (2003) (0)
PLASMA AND URINARY STEROID CONJUGATES IN CHILDREN WITH STEROID 21-HYDROXYLASE DEFICIENCY (1971) (0)
COLONIC PERFUSION STUDIES IN CONGENITAL CHLORIDE DIARRHOEA (1974) (0)
Towards Cloning of the APECED Gene. • 376 (1997) (0)
[Pediatric Research Foundation's research grants and efficiency of their use]. (2001) (0)
MULIBREY MANISM (1974) (0)
P1274 Decreased sensitivity of Candida albicans for azole antifungals - a complication of long-term prophylaxis in APECED patients (2007) (0)
[Overexploitation by Duodecim?]. (2001) (0)
Diagnosis of hypogonadotrophism versus delayed puberty in the male at pubertal age (1981) (0)
15 ADRENAL AND STEROIDAL CELL MEMBRANE PROTEINS OF 54 K AND 50 K ARE AUTOANTIGENS IN AUTOIMMUNE POLYENDOCRINOPATHY – CANDIDOSIS – ECTODERMAL DYSTROPHY (1988) (0)
[Developmental delay in a boy]. (1991) (0)
Endocrine complications of ACTH therapy of infantile spasms (1984) (0)
[Long-term exclusive breast feeding]. (1985) (0)
Arvo Ylppö 100 Years October 27, 1987 (1987) (0)
[Male puberty in a (46,XY-)girl]. (1981) (0)
165: ACTH test and insulin test in the prediction of clinical course in Idiopathic Nephrotic Syndrome (INS) (1976) (0)
LYMPHOCYTE SUBSETS AND AUTOANTIBODIES IN PATIENTS WITH AUTOIMMUNE POLYENDOCRINOPATHY - CANDIDOSIS ECTODERMAL DYSTROPHY (APECED) (1986) (0)
[The diagnostic value of growth charts]. (1978) (0)
breast-feeding or selenium supplemented formula feeding: a longitudinal study13 (1987) (0)
Steroidal puberty in girls with Turner's syndrome (1981) (0)
99: Evaluation of fluoxymesterone treatment of slow growth and maturation (1976) (0)
Screening for congenital hypothyroidism in Finland (1981) (0)
Lysinuric protein intolerance. (1980) (0)
[Adolescent somatic development and its variants]. (1973) (0)
Adrenal androgens are highly stimulated during ACTH therapy for infantile spasms (1984) (0)
P1273 Activity of posaconazole against clinical isolates of Candida albicans with decreased sensitivity tofiuconazole from autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients (2007) (0)
[Fructose intolerance and related diseases]. (1972) (0)
154 STEROID CELL AND ADRENAL ANTIBODIES IN AUTOIMMUNE POLYENDOCRINOPATHY - CANDIDOSIS - ECTODERMAL DYSTROPHY (APECED) (1985) (0)
Disturbed calcium andphosphate homeostasis during treatment withACTH ofinfantile spasms (1986) (0)
[Oral treatment of infantile diarrhea]. (1988) (0)
Anti-Cytokine Autoantibodies Preceding Onset of Autoimmune Polyendocrine Syndrome Type I Features in Early Childhood (2013) (0)
Aldocase activities in the liver in parents of patients with hereditary fructose intolerance. (1967) (0)
Skeletal Manifestations in APECED (2016) (0)
[Hereditary defects of carbohydrate metabolism]. (1962) (0)
CHARACTERISATION OF IDIOPATHIC ADDISON'S DISEASE BY ANTIBODY STUDIES (1975) (0)
Regulatory T cells (PP-045) (2010) (0)
Bile acids and hormonal steroids in bile of a boy with 3 -hyseoxysteroid dehydrogenase deficiency. (1972) (0)
Proceedings: Prevention of excessive tallness in girls. (1975) (0)
[Child health center as a promoter of children's health]. (1998) (0)
53. Transient Protein‐Loosing Enteropathy in an Eight Months Old Boy (1965) (0)

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