Andrea Gropman
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American pediatric neurologist
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(Suggest an Edit or Addition)According to Wikipedia, Andrea L. Gropman is an American pediatric neurologist specializing in neurodevelopmental disabilities and neurogenetics. She is a professor of pediatrics and neurology at the George Washington University School of Medicine & Health Sciences. Gropman is chief of neurogenetics and neurodevelopmental pediatrics and an attending neurologist at Children's National Hospital.
Andrea Gropman'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
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries (2012) (543)
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society (2014) (376)
- Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations (2001) (257)
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases (2011) (253)
- Phenotype and course of Hutchinson-Gilford progeria syndrome. (2008) (252)
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies (2016) (225)
- Mutations of MYO6 are associated with recessive deafness, DFNB37. (2003) (181)
- Clinical spectrum of succinic semialdehyde dehydrogenase deficiency (2003) (179)
- Neurological implications of urea cycle disorders (2007) (175)
- Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics (2007) (171)
- Urea Cycle Disorders Overview (2015) (167)
- Evidence Report: Genetic and metabolic testing on children with global developmental delay (2011) (160)
- Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C (2009) (159)
- Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). (2006) (149)
- The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. (2012) (149)
- Natural history of propionic acidemia. (2012) (116)
- Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. (1997) (98)
- Nckβ Interacts with Tyrosine-Phosphorylated Disabled 1 and Redistributes in Reelin-Stimulated Neurons (2003) (95)
- Acute management of propionic acidemia. (2012) (95)
- Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation (2016) (93)
- Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia (2009) (89)
- Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation (2004) (89)
- Cognitive outcome in urea cycle disorders. (2004) (89)
- Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age (2013) (81)
- Chronic management and health supervision of individuals with propionic acidemia. (2012) (80)
- Treatment of diencephalic syndrome with chemotherapy (1998) (79)
- Neuroimaging in Mitochondrial Disorders (2013) (75)
- New developments in Smith-Magenis syndrome (del 17p11.2) (2007) (74)
- Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY (2015) (70)
- Neurologic considerations in propionic acidemia. (2012) (69)
- Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency (2003) (63)
- Brain imaging in urea cycle disorders. (2010) (63)
- Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations (2014) (63)
- A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome (2017) (62)
- Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study (2014) (60)
- Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2) (2002) (57)
- Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium (2016) (56)
- The use of neuroimaging in the diagnosis of mitochondrial disease. (2010) (54)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder (2018) (51)
- Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches (2010) (49)
- Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome (2010) (49)
- 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. (2008) (48)
- A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans (2010) (45)
- Treatment of Mitochondrial Disorders (2014) (45)
- A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network (2017) (44)
- Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome. (2009) (40)
- Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. (2015) (40)
- Neurocognitive Phenotype of Isolated Methylmalonic Acidemia (2012) (39)
- Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. (2017) (37)
- Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. (2014) (36)
- Diagnosis and treatment of childhood mitochondrial diseases (2001) (36)
- Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome (2013) (36)
- MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia (2015) (35)
- The benefits and limitations of cell‐free DNA screening for 47, XXY (Klinefelter syndrome) (2017) (35)
- Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency (2010) (34)
- Effects of short‐course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome (2011) (34)
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling (2020) (33)
- Atypical patterns of inheritance. (2007) (33)
- Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II. (2001) (32)
- Unusual renal features of Lowe syndrome in a mildly affected boy. (2000) (31)
- Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations (2013) (31)
- Evidence-Based Decision Support for Neurological Diagnosis Reduces Errors and Unnecessary Workup (2014) (31)
- Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. (2018) (31)
- Clinical NOE 13C MRS for neuropsychiatric disorders of the frontal lobe. (2008) (31)
- The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations. (2004) (30)
- A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders. (2002) (30)
- A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome (2016) (29)
- Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population (2016) (29)
- Neurodevelopmental disorders and genetic testing: Current approaches and future advances (2013) (27)
- Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities (2014) (26)
- Patterns of brain injury in inborn errors of metabolism. (2012) (26)
- Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes–Associated Mitochondrial DNA A3243G Mutation (2014) (26)
- Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders (2019) (26)
- Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation (2017) (26)
- Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: An fMRI study (2013) (25)
- The Urea Cycle Disorders (2014) (24)
- Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. (2010) (24)
- Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants (2017) (24)
- Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. (2005) (24)
- Research challenges in central nervous system manifestations of inborn errors of metabolism. (2011) (23)
- MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. (2011) (22)
- The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy (2019) (22)
- Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. (2012) (21)
- MED23‐associated intellectual disability in a non‐consanguineous family (2015) (21)
- Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. (2014) (21)
- International telemedicine consultations for neurodevelopmental disabilities. (2014) (21)
- 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. (2008) (20)
- TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype (2011) (20)
- Identification of infants at risk for autism spectrum disorder and developmental language delay prior to 12 months (2015) (20)
- Children with Infantile Neuronal Ceroid Lipofuscinosis Have an Increased Risk of Hypothermia and Bradycardia During Anesthesia (2009) (20)
- Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY (2013) (19)
- Characteristics of undiagnosed diseases network applicants: implications for referring providers (2018) (19)
- High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly (2012) (18)
- Early prediction of phenotypic severity in Citrullinemia Type 1 (2019) (18)
- Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults. (2009) (18)
- Mitochondrial diseases in North America (2020) (18)
- Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. (2018) (17)
- Clinical utility gene card for: Holoprosencephaly (2011) (17)
- The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. (2018) (17)
- Urea cycle defects and hyperammonemia: effects on functional imaging (2013) (17)
- Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome) (2019) (16)
- Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY? (2013) (16)
- Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs) (2020) (14)
- Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity (2016) (14)
- Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. (2016) (14)
- Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA) (2015) (14)
- "Cerebral Palsy" in a Patient With Arginase Deficiency. (2017) (14)
- Black Toenail Sign in MELAS Syndrome. (2017) (13)
- Monitoring γ‐hydroxybutyric acid levels in succinate‐semialdehyde dehydrogenase deficiency (2004) (13)
- Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. (2014) (13)
- Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome (2014) (13)
- Wernicke's encephalopathy due to self starvation in a child (1998) (12)
- The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother. (2019) (12)
- Structural brain defects. (2015) (12)
- CNS manifestations in patients with telomere biology disorders (2019) (12)
- Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013. (2014) (12)
- Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy (2006) (11)
- Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development. (2019) (11)
- SMITH–MAGENIS SYNDROME (2005) (11)
- Neuroimaging of lipid storage disorders. (2013) (10)
- New frontiers in neuroimaging applications to inborn errors of metabolism. (2011) (10)
- From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria (2020) (10)
- Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis. (2009) (9)
- Multimodal imaging in urea cycle-related neurological disease – What can imaging after hyperammonemia teach us? (2020) (9)
- Cortical venous disease severity in MELAS syndrome correlates with brain lesion development (2017) (9)
- Imaging of neurogenetic and neurometabolic disorders of childhood (2004) (9)
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. (2020) (9)
- Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome (2020) (8)
- Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1 (2016) (8)
- Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency. (2020) (8)
- Prospective longitudinal overnight video-EEG evaluation in Phelan–McDermid Syndrome (2018) (8)
- Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients (2014) (8)
- Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders. (2020) (8)
- Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature (2020) (7)
- Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome) (2019) (7)
- Developmental and psychiatric presentations of inherited metabolic disorders. (2013) (7)
- Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy (2018) (7)
- Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood (2020) (6)
- Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia (2021) (6)
- Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue (2021) (6)
- A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease (2020) (6)
- Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy (2020) (6)
- Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX (2015) (6)
- So What? Does the Test Lead to Improved Health Outcomes? (2012) (6)
- Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. (2019) (5)
- Expanding the phenotypic profile of Kleefstra syndrome: A female with low‐average intelligence and childhood apraxia of speech (2016) (5)
- X & Y Chromosomal Variations: Hormones, Brain Development, and Neurodevelopmental Performance (2016) (5)
- Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism (2020) (5)
- The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis. (2019) (5)
- Retinoschisis associated with Kearns-Sayre syndrome (2020) (4)
- Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies (2021) (4)
- Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns (2021) (4)
- Speech and language development in children with 49,XXXXY syndrome (2020) (4)
- Fifteen years of urea cycle disorders brain research: Looking back, looking forward. (2021) (4)
- Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases (2022) (4)
- The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood (2021) (4)
- Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety‐related symptoms and intact social awareness (2020) (4)
- Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency (2015) (4)
- Neurocognitive development and capabilities in boys with 49,XXXXY syndrome (2020) (4)
- Long-term effects of medical management on growth and weight in individuals with urea cycle disorders (2020) (4)
- One is the loneliest number: genotypic matchmaking using the electronic health record (2021) (4)
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts (2019) (3)
- 49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder (2020) (3)
- Other Metabolic Syndromes (2018) (3)
- Introduction: Past, present, and future care of individuals with XXY (2013) (3)
- Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY (2020) (3)
- Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014)) (2019) (3)
- Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study (2020) (3)
- Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency (2020) (3)
- ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype (2021) (3)
- Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant (2018) (2)
- The functional impact of 1,570 SNP-accessible missense variants in human OTC (2022) (2)
- The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency (2021) (2)
- Near Infra-Red Spectroscopy (NIRS) in Urea Cycle Disorders and Typically Developing Children (2018) (2)
- Brain biomarkers and neuroimaging to diagnose urea cycle disorders and assess prognosis (2016) (2)
- A Newborn With Hyperlactatemia and Epileptic Encephalopathy. (2017) (2)
- Developing a New Set of ACGME Milestones for Child Neurology Residency. (2020) (2)
- MR Imaging Findings in Xp21.2 Duplication Syndrome. (2016) (2)
- MR Neuroimaging in Pediatric Inborn Errors of Metabolism (2022) (2)
- Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder (2016) (2)
- Mitochondrial Mechanisms and Neurological Disorders (2013) (2)
- 34 – Neurogenetics in the Genome Era (2017) (2)
- Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection (2021) (2)
- Neuromonitoring in Rare Disorders of Metabolism (2021) (2)
- A review of the intriguing interaction between testosterone and neurocognitive development in males with 47,XXY. (2020) (2)
- Practice Committee of the Child Neurology Society Subcommittee of the American Academy of Neurology and the global developmental delay : Report of the Quality Standards Evidence Report : Genetic and metabolic testing on children with April (2012) (2)
- Childhood Mitochondrial Disorders and Other Inborn Errors of Metabolism Presenting With White Matter Disease (2005) (2)
- Neurometabolic disorders: urea-cycle disorder, outcomes, development and treatment (2008) (1)
- Applying advances in neurogenetics to medical practice (2006) (1)
- Integrated proteomic and metabolomic analyses of the mitochondrial neurodegenerative disease MELAS. (2022) (1)
- Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier (2022) (1)
- Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome (2021) (1)
- Epilepsy and Electroencephalographic Features in Patients with Phelan McDermid Syndrome (P6.270) (2015) (1)
- Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome (2020) (1)
- A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases (2021) (1)
- DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study (2021) (1)
- Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency (2022) (1)
- Urea cycle defects and hyperammonemia: effects on functional imaging (2012) (1)
- The effect of Early Hormonal Treatment (EHT) on neuromotor capabilities in infants and toddlers with 47,XXY (2021) (1)
- Epigenetics and pervasive developmental disorders (2021) (1)
- First-line genetic testing for mitochondrial disorders in the next-generation sequencing era: Comprehensive known disease gene panel or exome sequencing? (2013) (1)
- Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism (2021) (1)
- Klinefelter Syndrome and Turner Syndrome (2021) (1)
- Novel neurocognitive profile in a minority of males with 47,XXY, Klinefelter syndrome: etiology unknown (2021) (0)
- Figure 5. [Microforms of holoprosencephaly (HPE) spectrum...]. (2013) (0)
- The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant (2019) (0)
- Oral Cysteamine bitartrate and N-acetylcysteine combination for patients with infantile neuronal ceroid lipofuscinosis:a pilot study (2015) (0)
- Emerging Knowledge From Noninvasive Imaging Studies: Is Ammonia Control Enough? (2019) (0)
- A 2-year-old male with developmental delay, irritability, and failure to thrive. (2008) (0)
- Abstracts from the ASENT 2007 Annual Meeting March 5–8, 2007 (2007) (0)
- BIOMARKERS FOR BIOCHEMICAL, PATHOPHYSIOLOGICAL, AND NEUROLOGICAL EFFECTS OF HIGH AMMONIA ON THE BRAIN (2023) (0)
- MRI and In Vivo Spectroscopy of the Brain (2022) (0)
- Neuroimaging in infants who present with inborn errors of metabolism (2014) (0)
- Reviewer Acknowledgment 2013 (2013) (0)
- Poster Abstract #15: Preliminary Experience With MRS at 3T in Urea Cycle Disorders Detects Altered Metabolism in Partial Ornithine Transcarbamylase Deficiency (2007) (0)
- Toward a physiological model of consciousness: A proposed website and study design to integrate connectome-based data repositories, EEG/sleep waveforms, and networkbased models of consciousness (2018) (0)
- Serial electrophysiological measurements of of visual function in infantile neuronal lipofuscinosis. (2004) (0)
- Whole exome sequencing shows oligogenic inheritance as a pathogenic mechanism for an atypical Leigh syndrome in a pediatric patient (2021) (0)
- Gaps in Neurogenetics Education During Child Neurology Residency: Results of a National Survey (2022) (0)
- Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation: importance of DNA collection for post‐mortem diagnosis (2011) (0)
- 49,XXXXY, a rare genetic disorder: The Relationship with Autism Spectrum Disorders (ASD), Developmental delay, and Testosterone (P3.305) (2018) (0)
- Urea Cycle Disorders in the US and Europe – Evidence-based Clinical Outcomes Derived from Two Decades of Experience with Prospective Registry Studies (2019) (0)
- Editorial: New Therapeutic Options for Rare Diseases (2022) (0)
- Reply regarding lesional perfusion abnormalities on arterial spin labeling in Leigh disease (2016) (0)
- Case 34: Lethargy, Stiffening, and Poor Feeding of Term Infant at 2½ Days of Age (2018) (0)
- Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother. (2021) (0)
- P300: Importance of neuromonitoring during acute crises in small molecule and energy deficiency neurometabolic disorders: Data over 10 years (2023) (0)
- Incidence of sex chromosome aneuploidy in Northern Italy: 27-year longitudinal study. (2023) (0)
- The natural history of vitamin B12-responsive cobalamin A-type methylmalonic acidemia (2021) (0)
- P224: An exploration of the neurodevelopmental phenotype of two patients with 48,XXYY during infancy (2023) (0)
- Response regarding involvement of the cerebral veins in MELAS syndrome (2017) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Smith-Magenis Syndrome]. (2012) (0)
- Figure 3. [Lobar HPEA. MRI in axial...]. (2013) (0)
- eP230: The effects of early androgen therapy on behavior in boys with 47,XXY under 6 years old (2022) (0)
- 2017 Reviewer Acknowledgment (2018) (0)
- 13-year longitudinal study on a male with 47,XYY and neurodevelopmental outcomes (2021) (0)
- Evaluation of Neurocognitive Function in Ornithine Transcarbamylase Deficiency (2020) (0)
- TACG_A_180450 191..202 (2019) (0)
- Figure 2. [Semilobar HPE A. MRI showing...]. (2013) (0)
- P324: A comprehensive investigation in the anthropomorphic measurements of males with 47,XXY (Klinefelter syndrome) from 6-18 years (2023) (0)
- Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY (2022) (0)
- eP253: Incidence of miscarriages and recurrent miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY (2022) (0)
- Table 2. [Clinical Features of Smith-Magenis Syndrome]. (2012) (0)
- VarSight: prioritizing clinically reported variants with binary classification algorithms (2019) (0)
- Figure 1. [Alobar HPE A. MRI of...]. (2013) (0)
- Role of brain imaging for demonstrating ammonia-induced changes (2015) (0)
- In-Hospital Mortality From Cerebral Edema in MSUD During Newborn Screening Era: What Are We Missing and What More Can We Do? (2022) (0)
- Figure 2. [Steps in the evaluation of a newborn with hyperammonemia]. (2015) (0)
- Figure 4. [Middle interhemispheric fusion (MIHF) A...]. (2013) (0)
- USE OF MITOCHONDRIAL METABOLIC INVESTIGATIONS TO VALIDATE SUSPECTED MITOCHONDRIAL ETIOLOGY IN PATIENTS WITH UNDEFINED GENOTYPIC DIAGNOSIS (2022) (0)
- Figure 3. [Testing used in the diagnosis of urea cycle disorders]. (2015) (0)
- Table 1. [Genes Associated with Autosomal Dominant Nonsyndromic HPE]. (2013) (0)
- ACUTE DECOMPENSATIONS IN SMALL MOLECULE AND ENERGY DEFICIENCY NEUROMETABOLIC DISORDERS – NEUROMONITORING DATA FROM SINGLE CENTER OVER 10 YEARS (2023) (0)
- Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome) (2022) (0)
- Abstract #2: Adults with Ornithine Transcarbamylase Deficiency (OTCD) Demonstrate Persistent Abnormality in Cerebral Glutamate Metabolism (2009) (0)
- eP156: Pilot study of functional near-infrared spectroscopy of cortical brain function during an auditory and visual N-back task in Klinefelter syndrome (2022) (0)
- Figure 2. [Early school-age SMS showing male...]. (2012) (0)
- Table 2. [Urea Cycle Disorders: Molecular Genetics]. (2015) (0)
- Figure 1. [The urea cycle (see Differential Diagnosis)]. (2015) (0)
- Abstracts from the ASENT 2009 Annual Meeting March 5–7, 2009 (2009) (0)
- Response to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome” (2020) (0)
- A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome). (2022) (0)
- Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities (2020) (0)
- Neuroimaging in Mitochondrial Disorders (2012) (0)
- Intraocular pressure and baroreflex (1998) (0)
- Table 3. [Selected RAI1 Pathogenic Variants]. (2012) (0)
- 115. Disease progression in Niemann-Pick disease, type C: Longitudinal (2008) (0)
- 59 – Treatment of Neurodevelopmental Disorders (2017) (0)
- CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES (2023) (0)
- The Behavioral Profile of 49,XXXXY and the Potential Impact of Testosterone Replacement Therapy (TRT). (2023) (0)
- The New Findings in the Genetics and Pathology of Structural Brain Diseases (2016) (0)
- Table 3. [Estimated Incidence of Individual Urea Cycle Disorders]. (2015) (0)
- A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative (2018) (0)
- Figure 3. [Adolescent females with Smith-Magenis syndrome...]. (2012) (0)
- P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs* (2023) (0)
- List of contributors. (2019) (0)
- Newborn Screening in the DMV Area (2019) (0)
- DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study (2021) (0)
- Table 1. [Cognitive and Adaptive Outcome in Children with UCD Age 3-16 Years]. (2015) (0)
- Figure 1. [Infants with SMS. Female age...]. (2012) (0)
- Integrated Proteomic and Metabolomic Analyses of the Mitochondrial Neurodegenerative Disease MELAS (2021) (0)
- P288: A comprehensive investigation of the anthropomorphic measurements in males with 47, XXY and the impact of early hormonal treatment (EHT) (2023) (0)
- 50 – Neurodevelopmental Disabilities: Conceptual Framework (2017) (0)
- HOLOPROSENCEPHALY (2020) (0)
- Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature (2022) (0)
- Table 4. [IV Ammonia Scavenger Therapy Protocol]. (2015) (0)
- ORIGINAL RESEARCH Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency (2010) (0)
- Mitochondrial Mechanisms and Neurological Disorders (2013) (0)
- The functional impact of 1,570 individual amino acid substitutions in human OTC. (2023) (0)
- List of contributors (2021) (0)
- Figure 6. [Facial findings in holoprosencephaly (HPE)...]. (2013) (0)
- Diffusion Tensor Imaging in Ornithine Transcarbamylase Deficiency (2016) (0)
- Mitochondrial medicine: the future is now (2020) (0)
- Reading Skills in Males with 47,XXY: Risk Factors and The Influence of Hormonal Replacement Treatment (HRT). (2023) (0)
- Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXY (2020) (0)
- Index of Suspicion in The NurseryCase 1: Lethargy, Stiffening, and Poor Feeding of Term Infant at 2½ Days of AgeCase 2: A Macrosomic Term Infant with Low Blood Glucose (2011) (0)
- Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants (2017) (0)
- New ideas in inborn errors of metabolism in children and infants (2014) (0)
- Poster Abstract #10: Preliminary Experience With Functional MRI (fMRI) Detects Altered Neural Networks Subserving Executive Function and Attention in Subjects With Partial Ornithine Transcarbamylase Deficiency (OTC) (2007) (0)
- Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU (2022) (0)
- IMPACT OF HYPERAMMONEMIA IN UREA CYCLE DISORDERS (UCD) ON DOWNSTREAM MARKERS OF IMPAIRED NEUROCOGNITION: USING NONINVASIVE IMAGING TO DELINEATE STRUCTURAL, METABOLIC AND FUNCTIONAL CONSEQUENCES (2022) (0)
- The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives. (2005) (0)
- Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister–Killian Syndrome and His Unaffected Twin (2022) (0)
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