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Fatty acid oxidation disorders

Annals of translational medicine, 2018-12, Vol.6 (24), p.473-473

2018

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Clinical manifestations and management of fatty acid oxidation disorders

Reviews in endocrine & metabolic disorders, 2020-12, Vol.21 (4), p.479-493

2020

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A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained Event

Pediatrics (Evanston), 2019-08, Vol.144 (2)

2019

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Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2733-2739

2018

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Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.109-113

2018

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Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia

The journal of clinical endocrinology and metabolism, 2023-01, Vol.108 (1), p.155-165

2023

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

American journal of human genetics, 2024-04, Vol.111 (4), p.778-790

2024

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Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

Pediatrics international, 2012-10, Vol.54 (5), p.585-601

2012

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Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

Journal Of Movement Disorders, 2022, 15(3), , pp.281-283

2022

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Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

Pediatrics (Evanston), 2016-05, Vol.137 (5)

2016

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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.484-492

2014

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Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary

Pediatrics (Evanston), 2016-05, Vol.137 (5)

2016

Volltextzugriff (PDF)

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

American journal of human genetics, 2024-06, Vol.111 (6), p.1240-1240

2024

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Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.847-856

2021

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Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders

JPEN. Journal of parenteral and enteral nutrition, 2021-02, Vol.45 (2), p.230-238

2021

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Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Molecular genetics and metabolism, 2019-08, Vol.127 (4), p.336-345

2019

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Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.29-34

2015

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Newborn screening and renal disease: where we have been; where we are now; where we are going

Pediatric nephrology (Berlin, West), 2012-09, Vol.27 (9), p.1453-1464

2012

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Cystathionine Beta-Synthase Deficiency Heralded by Cerebral Sinus Venous Thrombosis and Stroke

Pediatric neurology, 2014, Vol.50 (1), p.108-111

2014

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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Molecular genetics and metabolism, 2010, Vol.100 (Suppl 1), p.S97-S105

2010

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Orphan drugs in development for long-chain fatty acid oxidation disorders: challenges and progress

Orphan drugs, 2015-01, Vol.5, p.33

2015

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Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)

Pediatrics international, 2013-12, Vol.55 (6), p.e156-e158

2013

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A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.123-126

2009

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Delineation of the cryptic 1qter deletion phenotype

American journal of medical genetics. Part A, 2007-03, Vol.143A (6), p.599-603

2007

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Fatty acid oxidation disorders

Clinical manifestations and management of fatty acid oxidation disorders

A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained Event

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening

Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Newborn screening and renal disease: where we have been; where we are now; where we are going

Cystathionine Beta-Synthase Deficiency Heralded by Cerebral Sinus Venous Thrombosis and Stroke

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Orphan drugs in development for long-chain fatty acid oxidation disorders: challenges and progress

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)

A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene

Delineation of the cryptic 1qter deletion phenotype

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