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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Genetics in medicine, 2015-09, Vol.17 (9), p.689-701

2015

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Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency

International journal of molecular sciences, 2024-02, Vol.25 (3), p.1386

2024

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Surgical treatment of movement disorders in neurometabolic conditions

Frontiers in neurology, 2023-06, Vol.14, p.1205339-1205339

2023

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The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

American journal of human genetics, 2012-02, Vol.90 (2), p.295-300

2012

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Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium

Journal of inherited metabolic disease, 2016-07, Vol.39 (4), p.573-584

2016

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Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU

Genes, 2022-09, Vol.13 (10), p.1690

2022

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Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue

Frontiers in neurology, 2021-04, Vol.12, p.632307-632307

2021

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Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

International journal of neonatal screening, 2021-11, Vol.7 (4), p.76

2021

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MR Neuroimaging in Pediatric Inborn Errors of Metabolism

Diagnostics (Basel), 2022-03, Vol.12 (4), p.861

2022

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The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Genes, 2023-07, Vol.14 (7), p.1402

2023

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Neuroimaging in Mitochondrial Disorders

Neurotherapeutics, 2013-04, Vol.10 (2), p.273-285

Gropman, Andrea L.

2013

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Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome

Nutrients, 2020-10, Vol.12 (10), p.3136

2020

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Patterns of Brain Injury in Inborn Errors of Metabolism

Seminars in pediatric neurology, 2012-12, Vol.19 (4), p.203-210

Gropman, Andrea L., MD, FAAP, FACMG

2012

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Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes–Associated Mitochondrial DNA A3243G Mutation

Journal of child neurology, 2014-09, Vol.29 (9), p.1249-1256

2014

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Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.118-126

2014

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Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches

Journal of developmental and behavioral pediatrics, 2010-09, Vol.31 (7), p.582-591

2010

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Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine

Neurotherapeutics, 2024-01, Vol.21 (1), p.e00311-e00311, Article e00311

2024

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Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency

PloS one, 2015-06, Vol.10 (6), p.e0129595-e0129595

2015

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Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin

Frontiers in pediatrics, 2022-03, Vol.10, p.817133

2022

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Early prediction of phenotypic severity in Citrullinemia Type 1

Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1858-1871

2019

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Structural Brain Defects

Clinics in perinatology, 2015-06, Vol.42 (2), p.337-361

2015

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Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

Annals of neurology, 2001-06, Vol.49 (6), p.706-711

2001

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Developmental and Psychiatric Presentations of Inherited Metabolic Disorders

Pediatric neurology, 2013-03, Vol.48 (3), p.179-187

2013

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency

Surgical treatment of movement disorders in neurometabolic conditions

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium

Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU

Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

MR Neuroimaging in Pediatric Inborn Errors of Metabolism

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Neuroimaging in Mitochondrial Disorders

Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome

Patterns of Brain Injury in Inborn Errors of Metabolism

Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes–Associated Mitochondrial DNA A3243G Mutation

Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches

Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin

Early prediction of phenotypic severity in Citrullinemia Type 1

Structural Brain Defects

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

Developmental and Psychiatric Presentations of Inherited Metabolic Disorders

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