Sally P. Stabler
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Biology
Sally P. Stabler's Degrees
- Bachelors Biology University of California, Berkeley
- PhD Genetics Stanford University
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(Suggest an Edit or Addition)Sally P. Stabler'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
- Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura (2001) (1663)
- Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. (1988) (1246)
- Total homocysteine in plasma or serum: methods and clinical applications. (1993) (1030)
- Clinical practice. Vitamin B12 deficiency. (1996) (777)
- Prevalence of cobalamin deficiency in the Framingham elderly population. (1994) (708)
- Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies. (1994) (691)
- Homocysteine metabolism and risk of myocardial infarction: relation with vitamins B6, B12, and folate. (1996) (503)
- Vitamin B12 deficiency as a worldwide problem. (2004) (488)
- Diagnosis of cobalamin deficiency: II. Relative sensitivities of serum cobalamin, methylmalonic acid, and total homocysteine concentrations (1990) (487)
- Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry. (1988) (483)
- Vitamin B12 deficiency (2017) (470)
- High Prevalence of Cobalamin Deficiency in Elderly Outpatients (1992) (458)
- Clinical spectrum and diagnosis of cobalamin deficiency. (1990) (411)
- Diagnosis of cobalamin deficiency I: Usefulness of serum methylmalonic acid and total homocysteine concentrations (1990) (376)
- Metabolic abnormalities in cobalamin (vitamin B12) and folate deficiency (1993) (359)
- Metabolic evidence that deficiencies of vitamin B-12 (cobalamin), folate, and vitamin B-6 occur commonly in elderly people. (1993) (329)
- Effects of vitamin B12, folate, and vitamin B6 supplements in elderly people with normal serum vitamin concentrations (1995) (310)
- Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectrometry. (1987) (303)
- The effect of a subnormal vitamin B-6 status on homocysteine metabolism. (1996) (272)
- Sex and menopausal status influence human dietary requirements for the nutrient choline. (2007) (271)
- Homocysteine and methylmalonic acid: markers to predict and avoid toxicity from pemetrexed therapy. (2002) (265)
- Vitamin B12 Deficiency and Depression in Physically Disabled Older Women: Epidemiologic Evidence From the Women’s Health and Aging Study (2000) (263)
- Effective treatment of cobalamin deficiency with oral cobalamin. (1998) (256)
- Homocysteine and its disulfide derivatives: a suggested consensus terminology. (2000) (227)
- Homocysteine and the Risk of Ischemic Stroke in a Triethnic Cohort: The Northern Manhattan Study (2004) (214)
- S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism (2004) (210)
- Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. (1993) (208)
- Effective Treatment of Cobalamin Deficiency With Oral Cobalamin (1998) (198)
- Ethanol feeding of micropigs alters methionine metabolism and increases hepatocellular apoptosis and proliferation (1996) (186)
- Total Homocysteine Is Associated With White Matter Hyperintensity Volume: The Northern Manhattan Study (2005) (180)
- Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry. (1986) (177)
- Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency (1993) (174)
- Methyl balance and transmethylation fluxes in humans. (2007) (162)
- Vitamin B-12 deficiency in the elderly: current dilemmas. (1997) (161)
- Maternal choline intake modulates maternal and fetal biomarkers of choline metabolism in humans. (2012) (142)
- Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia (2001) (142)
- Elevated Methylmalonic Acid and Total Homocysteine Levels Show High Prevalence of Vitamin B12 Deficiency after Gastric Surgery (1996) (134)
- Cytoplasmic Serine Hydroxymethyltransferase Regulates the Metabolic Partitioning of Methylenetetrahydrofolate but Is Not Essential in Mice* (2008) (130)
- Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerebrospinal fluid of patients with cobalamin deficiency. (1993) (129)
- Zinc, gravida, infection, and iron, but not vitamin B-12 or folate status, predict hemoglobin during pregnancy in Southern Ethiopia. (2008) (128)
- Vitamin B(12) deficiency and depression in physically disabled older women: epidemiologic evidence from the Women's Health and Aging Study. (2000) (126)
- Identification and quantitation of cobalamin and cobalamin analogues in human feces. (2008) (126)
- Etiology and diagnostic evaluation of macrocytosis. (2000) (125)
- Screening the Older Population for Cobalamin (Vitamin B12) Deficiency (1995) (125)
- Hyperhomocysteinemia and vitamin B-12 deficiency in elderly using Title IIIc nutrition services. (2003) (116)
- Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. (1993) (112)
- Quantitation of methylmalonic acid and other dicarboxylic acids in normal serum and urine using capillary gas chromatography-mass spectrometry. (1985) (110)
- Biomarkers of vitamin B-12 status in NHANES : a roundtable summary 1 – 6 (2011) (110)
- Versatility in Corrinoid Salvaging and Remodeling Pathways Supports Corrinoid-Dependent Metabolism in Dehalococcoides mccartyi (2012) (109)
- Vitamin supplementation and other variables affecting serum homocysteine and methylmalonic acid concentrations in elderly men and women. (1996) (107)
- Plasma total homocysteine and risk of angina pectoris with subsequent coronary artery bypass surgery. (1997) (103)
- Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice. (2011) (102)
- Association of folate intake and serum homocysteine in elderly persons according to vitamin supplementation and alcohol use. (2001) (98)
- The use of homocysteine and other metabolites in the specific diagnosis of vitamin B-12 deficiency. (1996) (98)
- Vitamin B12 deficiency is the primary cause of megaloblastic anaemia in Zimbabwe (1994) (97)
- Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia. (2004) (94)
- Pancytopenia in Zimbabwe. (1999) (94)
- Pregnancy alters choline dynamics: results of a randomized trial using stable isotope methodology in pregnant and nonpregnant women. (2013) (92)
- Quantification of serum and urinary S-adenosylmethionine and S-adenosylhomocysteine by stable-isotope-dilution liquid chromatography-mass spectrometry. (2004) (92)
- Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women (2008) (92)
- Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. (2007) (92)
- Response of Elevated Methylmalonic Acid to Three Dose Levels of Oral Cobalamin in Older Adults (2002) (89)
- S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy (2005) (82)
- Total homocysteine and cognition in a tri-ethnic cohort (2004) (81)
- Glycine N-methyltransferase deficiency: A new patient with a novel mutation (2003) (81)
- Acquired immunodeficiency syndrome-associated non-Hodgkin's lymphomas and other malignancies in patients with hemophilia. (1993) (80)
- Racial differences in prevalence of cobalamin and folate deficiencies in disabled elderly women. (1999) (79)
- Daily intake of 4 to 7 microg dietary vitamin B-12 is associated with steady concentrations of vitamin B-12-related biomarkers in a healthy young population. (2010) (78)
- Total homocysteine is associated with nephropathy in non-insulin-dependent diabetes mellitus. (1999) (75)
- Low ratio of S-adenosylmethionine to S-adenosylhomocysteine is associated with vitamin deficiency in Brazilian pregnant women and newborns. (2004) (74)
- Vitamin B12, homocysteine and carotid plaque in the era of folic acid fortification of enriched cereal grain products (2005) (74)
- Changes in plasma methionine and total homocysteine levels in patients receiving methotrexate infusions. (1989) (72)
- MTHFR C677T genotype influences the isotopic enrichment of one-carbon metabolites in folate-compromised men consuming d9-choline. (2011) (72)
- Serum Methionine Metabolites Are Risk Factors for Metastatic Prostate Cancer Progression (2011) (72)
- Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. (2002) (72)
- Screening for Cobalamin Deficiency in Geriatric Outpatients: Prevalence and Influence of Synthetic Cobalamin Intake (2002) (71)
- Translational upregulation of folate receptors is mediated by homocysteine via RNA-heterogeneous nuclear ribonucleoprotein E1 interactions. (2004) (70)
- Markers of B-vitamin deficiency and frailty in older women (2008) (70)
- Nuclear Localization of de Novo Thymidylate Biosynthesis Pathway Is Required to Prevent Uracil Accumulation in DNA* (2011) (70)
- Mthfd1 Is an Essential Gene in Mice and Alters Biomarkers of Impaired One-carbon Metabolism* (2009) (69)
- High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β‐synthase (CBS) mutations (2002) (69)
- S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man (2006) (68)
- Biomarkers of vitamin B-12 status in NHANES: a roundtable summary123456 (2011) (66)
- Inhibition of cobalamin-dependent enzymes by cobalamin analogues in rats. (1991) (63)
- Maternal folate deficiency results in selective upregulation of folate receptors and heterogeneous nuclear ribonucleoprotein-E1 associated with multiple subtle aberrations in fetal tissues. (2005) (62)
- Elevations of serum cystathionine and total homocysteine in pyridoxine-, folate-, and cobalamin-deficient rats (1997) (61)
- Impaired homocysteine transsulfuration is an indicator of alcoholic liver disease. (2010) (59)
- A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment (2010) (58)
- Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. (2003) (58)
- Vitamin B12 deficiency. (2013) (58)
- S-adenosyl-L-methionine treatment for alcoholic liver disease: a double-blinded, randomized, placebo-controlled trial. (2011) (58)
- Biomarkers of folate status in NHANES : a roundtable summary 1 – 6 (2011) (57)
- Relevance of vitamins, homocysteine and other metabolites in neuropsychiatric disorders (1998) (57)
- Is the increase in serum cystathionine levels in patients with liver cirrhosis a consequence of impaired homocysteine transsulfuration at the level of gamma-cystathionase? (2000) (57)
- Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. (2009) (56)
- Apparent ruminal synthesis and intestinal disappearance of vitamin B12 and its analogs in dairy cows. (2009) (56)
- Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle (2007) (55)
- Relationship between S-adenosylmethionine, S-adenosylhomocysteine, asymmetric dimethylarginine, and endothelial function in healthy human subjects during experimental hyper- and hypohomocysteinemia. (2005) (54)
- Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death* (2012) (54)
- Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. (2002) (54)
- Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment (2010) (53)
- Knowledge gaps in understanding the metabolic and clinical effects of excess folates/folic acid: a summary, and perspectives, from an NIH workshop. (2020) (52)
- Elevated midtrimester serum methylmalonic acid levels as a risk factor for neural tube defects. (1995) (52)
- High‐ but not low‐dose folic acid improves endothelial function in coronary artery disease (2006) (50)
- Biomarkers of folate status in NHANES: a roundtable summary123456 (2011) (50)
- Vitamin B12 deficiency in African American and white octogenarians and centenarians in Georgia (2009) (49)
- Testosterone regulation of renal cystathionine beta-synthase: implications for sex-dependent differences in plasma homocysteine levels. (2007) (49)
- Short term betaine therapy fails to lower elevated fasting total plasma homocysteine concentrations in hemodialysis patients maintained on chronic folic acid supplementation. (1995) (48)
- Regulation of methionine metabolism: Effects of nitrous oxide and excess dietary methionine☆ (1994) (45)
- Choline intakes exceeding recommendations during human lactation improve breast milk choline content by increasing PEMT pathway metabolites. (2015) (43)
- Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency (1991) (43)
- Increasing homocysteine levels and diabetic autonomic neuropathy (2001) (42)
- Coenzyme A metabolism in vitamin B-12-deficient rats. (1990) (41)
- Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy (2003) (41)
- Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes (2015) (38)
- S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes (2010) (38)
- Adverse Event Associated With Methionine Loading Test: A Case Report (2002) (37)
- Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty (2009) (37)
- Relationship among homocyst(e)ine, vitamin B-12 and cardiac disease in the elderly: association between vitamin B-12 deficiency and decreased left ventricular ejection fraction. (1996) (36)
- Plasma cysteine concentrations in infants with respiratory distress. (1994) (35)
- Maternal Diet Supplemented with Methyl-Donors Protects against Atherosclerosis in F1 ApoE−/− Mice (2013) (35)
- Vitamin B-12 Status Differs among Pregnant, Lactating, and Control Women with Equivalent Nutrient Intakes. (2015) (34)
- Elevated Methylmalonic Acid Is Related to Cognitive Impairment in Older Adults Enrolled in an Elderly Nutrition Program (2005) (34)
- B12 and nutrition. (1999) (34)
- Cigarette smoke extract increases S-adenosylmethionine and cystathionine in human lung epithelial-like (A549) cells. (2004) (33)
- Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. (2006) (32)
- Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. (2013) (32)
- Mechanism of conversion of human apo- to holomethionine synthase by various forms of cobalamin. (1991) (32)
- Excess Folic Acid Increases Lipid Storage, Weight Gain, and Adipose Tissue Inflammation in High Fat Diet-Fed Rats (2016) (32)
- Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. (2010) (31)
- Parallel decrease in neurotoxin quinolinic acid and soluble tumor necrosis factor receptor p75 in serum during highly active antiretroviral therapy of HIV type 1 disease. (2000) (31)
- Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. (2014) (30)
- Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. (2011) (30)
- Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice. (2012) (30)
- Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk. (2012) (27)
- Vitamin B12 Deficiency in Older People: Improving Diagnosis and Preventing Disability (1998) (26)
- Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine/S-adenosylhomocysteine values in Brazilian childbearing-age women. (2008) (26)
- The methylenetetrahydrofolate reductase polymorphism (MTHFR c.677C>T) and elevated plasma homocysteine levels in a U.S. pediatric population with incident thromboembolism. (2013) (25)
- B-vitamin deficiency is protective against DSS-induced colitis in mice. (2011) (25)
- Oxidative stress-induced regulation of the methionine metabolic pathway in human lung epithelial-like (A549) cells. (2009) (23)
- Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. (2012) (23)
- Isolation and characterization of DL-methylmalonyl-coenzyme A racemase from rat liver. (1985) (23)
- Carnitine metabolism in the vitamin B-12-deficient rat. (1988) (23)
- Age-Related Hearing Loss, Methylmalonic Acid, and Vitamin B12 Status in Older Adults (2007) (22)
- Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes. (2012) (22)
- Elevated serum S-adenosylhomocysteine in cobalamin-deficient megaloblastic anemia. (2007) (22)
- Vitamins, homocysteine, and cognition. (2003) (22)
- Prevalence and predictors of anemia in a population-based study of octogenarians and centenarians in Georgia. (2012) (22)
- Oral vitamin B12 supplement is delivered to the distal gut, altering the corrinoid profile and selectively depleting Bacteroides in C57BL/6 mice (2019) (21)
- Increased hepatic mitochondrial capacity in rats with hydroxy-cobalamin[c-lactam]-induced methylmalonic aciduria. (1990) (21)
- Reduced MTHFD1 activity in male mice perturbs folate- and choline-dependent one-carbon metabolism as well as transsulfuration. (2013) (21)
- Elevated serum S-adenosylhomocysteine in cobalamin-deficient elderly and response to treatment. (2006) (21)
- Vitamin B12 Deficiency after Gastric Surgery (1996) (21)
- Vitamin B 12 deficiency (2013) (20)
- Altered hepatic sulfur metabolism in cystathionine β‐synthase‐deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways (2014) (20)
- Subclinical vitamin B12 deficiency in pregnant women attending an antenatal clinic in Nigeria (2009) (19)
- Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia. (2016) (19)
- Decrease of elevated N,N-dimethylglycine and N-methylglycine in human immunodeficiency virus infection during short-term highly active antiretroviral therapy. (2001) (19)
- Inhibition of vitamin B12 metabolism by OH-cobalamin c-lactam in rat oligodendrocytes in culture: a model for studying neuropathy due to vitamin B12 deficiency. (2000) (18)
- Influence of Physiologic Folate Deficiency on Human Papillomavirus Type 16 (HPV16)-harboring Human Keratinocytes in Vitro and in Vivo* (2012) (18)
- O2-induced changes in lung and storage pool thiols in mice: effect of superoxide dismutase. (1993) (18)
- Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. 1988. (1995) (18)
- Effects of parenteral cysteine and glutathione feeding in a baboon model of severe prematurity. (2000) (17)
- Effect of hydroxycobalamin[c-lactam] on propionate and carnitine metabolism in the rat. (1990) (17)
- Alpha-lipoic acid induces elevated S-adenosylhomocysteine and depletes S-adenosylmethionine. (2009) (17)
- Identification and perturbation of mutant human fibroblasts based on measurements of methylmalonic acid and total homocysteine in the culture media. (1993) (17)
- Maternal methionine adenosyltransferase I/III deficiency: Reproductive outcomes in a woman with four pregnancies (2003) (16)
- Taurine treatment prevents derangement of the hepatic γ‐glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism (2017) (16)
- [51] l-Methylmalonyl-CoA mutase from human placenta (1988) (16)
- Relationships between gene polymorphisms of folate-related proteins and vitamins and metabolites in pregnant women and neonates. (2008) (15)
- Profiles of Cognitive Functioning in a Population-Based Sample of Centenarians Using Factor Mixture Analysis (2013) (15)
- Transient Sunitinib Resistance in Gastrointestinal Stromal Tumors (2013) (15)
- Sex-specific dysregulation of cysteine oxidation and the methionine and folate cycles in female cystathionine gamma-lyase null mice: a serendipitous model of the methylfolate trap (2015) (14)
- Sex-specific association of sequence variants in CBS and MTRR with risk for promoter hypermethylation in the lung epithelium of smokers. (2012) (14)
- High prevalence of cobalamin deficiency in the elderly. (1996) (14)
- Identification of cobalamin and cobalamin analogues along the gastrointestinal tract of dairy cows (2009) (13)
- Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria. (2017) (13)
- The effects of folate intake on DNA and single-carbon pathway metabolism in the fruit fly Drosophila melanogaster compared to mammals. (2015) (13)
- L-methylmalonyl-CoA mutase from human placenta. (1988) (12)
- Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism. (2020) (12)
- Increased MMA concentration and body mass index are associated with spontaneous abortion in Brazilian women: a pilot study. (2010) (12)
- Disruption of shmt1 impairs hippocampal neurogenesis and mnemonic function in mice. (2013) (12)
- Evidence Favoring a Positive Feedback Loop for Physiologic Auto Upregulation of hnRNP-E1 during Prolonged Folate Deficiency in Human Placental Cells. (2017) (11)
- Failure to detect beta-leucine in human blood or leucine 2,3-aminomutase in rat liver using capillary gas chromatography-mass spectrometry. (1988) (11)
- Supplementing lactating dairy cows with a vitamin B12 precursor, 5,6-dimethylbenzimidazole, increases the apparent ruminal synthesis of vitamin B12. (2015) (11)
- Hemoglobin Denver [α2β241 (C7) Phe→Ser]: A Low-O2-Affinity Variant Associated With Chronic Cyanosis and Anemia (1994) (11)
- Life-threatening megaloblastic pancytopenia with normal mean cell volume: Case series. (2007) (11)
- Folate Deficiency Facilitates Genomic Integration of Human Papillomavirus Type 16 DNA In Vivo in a Novel Mouse Model for Rapid Oncogenic Transformation of Human Keratinocytes. (2018) (11)
- Taurine alleviates repression of betaine‐homocysteine S‐methyltransferase and significantly improves the efficacy of long‐term betaine treatment in a mouse model of cystathionine β‐synthase–deficient homocystinuria (2019) (10)
- Correction: Vitamin B12 deficiency (2017) (10)
- MTHFR C 677 T genotype influences the isotopic enrichment of one-carbon metabolites in folate-compromised men consuming d 9-choline 1 – 3 (2011) (10)
- Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women (2015) (9)
- Oral cobalamin therapy in patients who absorb it normally. (1998) (9)
- Activation of a novel isoform of methionine adenosyl transferase 2A and increased S-adenosylmethionine turnover in lung epithelial cells exposed to hyperoxia. (2006) (8)
- Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial (2019) (8)
- Alterations in Sulfur Amino Acids as Biomarkers of Disease. (2020) (7)
- Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding (2006) (7)
- Cystathionine γ-lyase promotes estrogen-stimulated uterine artery blood flow via glutathione homeostasis (2020) (7)
- The oldest old: Red blood cell and plasma folate in African American and white octogenarians and centenarians in Georgia (2011) (6)
- Identification of ABC transporters acting in vitamin B12 metabolism in Caenorhabditis elegans. (2017) (5)
- Clinical Folate Defi ciency (2009) (5)
- Methylene-tetrahydrofolate reductase contributes to allergic airway disease (2018) (5)
- [49] d-methylmalonyl-CoA hydrolase (1988) (4)
- AIDS-associated non-Hodgkin's lymphomas as primary and secondary AIDS diagnoses in hemophiliacs. Hemophilia Malignancy Study Group. (1996) (4)
- Recurrence of inhibitor after orthotopic liver transplantation in severe haemophilia A (2009) (4)
- p53 Disruption Increases Uracil Accumulation in DNA of Murine Embryonic Fibroblasts and Leads to Folic Acid-Nonresponsive Neural Tube Defects in Mice. (2020) (4)
- Reduced Shmt2 expression impairs mitochondrial folate accumulation and respiration, and leads to uracil accumulation in mouse mitochondrial DNA (2021) (4)
- Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis. (2021) (3)
- Maternal Amino Acid Profiles to Distinguish Constitutionally Small versus Growth-Restricted Fetuses Defined by Doppler Ultrasound: A Pilot Study (2020) (3)
- Anemias due to essential nutrient deficiencies. (2015) (3)
- [50] dl-methylmalonyl-CoA racemase from rat liver (1988) (2)
- Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. (2017) (2)
- Hemoglobin Denver [alpha 2 beta 2(41) (C7) Phe-->Ser]: a low-O2-affinity variant associated with chronic cyanosis and anemia. (1994) (2)
- Blood Disorders in the Elderly: Prevalence and mechanisms of B12 deficiency (2007) (2)
- Using homocysteine and related metabolites to diagnose vitamin deficiency states. (2000) (2)
- Very Low Prevalence of Hyperhomocysteinemia among US Children with Personal/Family History of Thrombosis. Towards Reconsideration of the Recommendation for Routine Testing. (2005) (2)
- Tight Regulation of H3K79 Methylation Levels in KMT2A-Rearranged AML (2018) (2)
- ARE LABORATORY MEASUREMENT OF FOLATE ADEQUATE ? AUTHORS' REPLY (1995) (2)
- Specific patterns of H3K79 methylation influence genetic interaction of oncogenes in AML. (2020) (2)
- S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency: myopathy seems to be congenital (2005) (2)
- Lack of Anemia Despite Marked Elevation of Serum Methylmalonic Acid and Total Homocysteine in a Multiethnic Cohort. (2004) (1)
- ORIGINAL CONTRIBUTIONS Homocysteine Metabolism and Risk of Myocardial Infarction : Relation with Vitamins (2005) (1)
- Vitamin B12 (2020) (1)
- Vitamin B12 status is impaired in a subgroup of healthy young adults (2006) (1)
- Megaloblastic and Nutritional Anemias (2016) (1)
- ORAL COBALAMIN THERAPY IN PATIENTS WHO ABSORB IT NORMALLY. AUTHORS' REPLY (1998) (1)
- Maternal Mthfd 1 disruption impairs fetal growth but does not cause neural tube defects in mice 1 – 3 (2012) (1)
- Maternal methyl-donor supplementation protects against atherosclerosis in F1 ApoE-/- mice (P4424) (2013) (1)
- Homocysteine and Folate Status in Octogenarians and Centenarians in Georgia (2010) (1)
- DL-methylmalonyl-CoA racemase from rat liver. (1988) (1)
- Vitamins , homocysteine , and cognition 1 , 2 (2003) (1)
- New approaches to the diagnosis of cobalamin (Cbl, vitamin B12) deficiency in neuropsychiatric disorders. (1992) (1)
- Influence of lactation and choline intake on one‐carbon biomarkers in women (2013) (1)
- D-methylmalonyl-CoA hydrolase. (1988) (1)
- Methyl balance and transmethylation fluxes in humans 1 4 S (2006) (0)
- S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency: First proven case in a human (2003) (0)
- In reply (1993) (0)
- Program for the 11 th International Conference on Homocysteine & One-Carbon Metabolism 2017 (2017) (0)
- Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine (1995) (0)
- colitis in mice B-vitamin deficiency is protective against DSS-induced (2011) (0)
- Reduced methionine synthase expression results in uracil accumulation in mitochondrial DNA and impaired oxidative capacity. (2023) (0)
- Reply to V Herbert (1998) (0)
- Effects of Methionine Synthase (MS) A2756G and Methionine Synthase Reductase (MSR) A66G Polymorphisms on Methionine Metabolism in Brazilian Pregnant Women and Their Neonates. (2004) (0)
- Interaction between Polymorphisms MTHFR C677T and MTRR A66G and Vitamin Levels in Pregnant Women. (2004) (0)
- Population screening. (2003) (0)
- Total Homocysteine in Plasmaor Serum:Methodsand ClinicalApplications (1993) (0)
- The influence of low maternal cobalamin (Cbl) levels on the maternal and neonatal homocysteine remethylation pathway (2003) (0)
- [Surgery in hemophilia]. (1969) (0)
- Abstract 2633: Single nucleotide polymorphisms in one carbon metabolism genes are associated with methylation patterns and plasma metabolites in high risk smokers based on gender (2012) (0)
- Anemia in Centenarians Is Associated with Elevated Serum 2−Methylcitric Acid but Not Other Measures of Cobalamin Deficiency or Renal Status. (2006) (0)
- THE ELDERLY NEED ORAL VITAMIN B-123. AUTHORS' REPLIES (1998) (0)
- Test for sulfhydryl amino acid and method for detecting and discriminating of cobalamin and folate. (1987) (0)
- Contributors to Volume 1 (2020) (0)
- In Memoriam: S. Harvey Mudd (2015) (0)
- Reduced MTHFD 1 Activity in Male Mice Perturbs Folate-and Choline-Dependent One-Carbon Metabolism as Well as Transsulfuration 1 , 2 (2012) (0)
- Homocysteine and Other Metabolites in the Diagnosis and Follow-Up of Cobalamin and Folate Deficiencies (1997) (0)
- This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the author's clinical recommendations. (2013) (0)
- Colloquium: Homocyst(e)ine, Vitamins and Arterial Occlusive Diseases The use of Homocysteine and Other Metabolites in the Specific Diagnosis of Vitamin B-12 Deficiency1'2 (1996) (0)
- VITAMIN B12 DEFICIENCY AFTER GASTRIC SURGERY. AUTHORS' REPLY (1996) (0)
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