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Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.117-125

2022

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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Scientific reports, 2021-09, Vol.11 (1), p.19300-19300, Article 19300

2021

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Genome medicine, 2022-04, Vol.14 (1), p.38-38, Article 38

2022

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Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Annals of neurology, 2018-05, Vol.83 (5), p.970-979

2018

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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Scientific reports, 2021-10, Vol.11 (1), p.20618-20618, Article 20618

2021

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Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.477-477, Article 477

2021

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Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism

Children (Basel), 2023-11, Vol.10 (12), p.1873

2023

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Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

American journal of human genetics, 2013-11, Vol.93 (5), p.906-914

2013

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Psychological well‐being of early and continuously treated phenylketonuria patients

JIMD reports, 2021-05, Vol.59 (1), p.69-80

2021

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Effect of Fish Oil Supplementation on Fatty Acid Status, Coordination, and Fine Motor Skills in Children with Phenylketonuria

The Journal of pediatrics, 2007-05, Vol.150 (5), p.479-484

2007

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Metabolomics of dietary fatty acid restriction in patients with phenylketonuria

PloS one, 2012-08, Vol.7 (8), p.e43021-e43021

2012

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Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

Molecular genetics and metabolism reports, 2017-03, Vol.10 (C), p.1-4

2017

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Comparison of bloodstream fatty acid composition from African-American women at gestation, delivery, and postpartum

Journal of lipid research, 2005-03, Vol.46 (3), p.516-525

2005

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Ernährungstherapie bei angeborenen Erkrankungen des Aminosäurestoffwechsels

Aktuelle Ernährungsmedizin, 2019-06, Vol.44 (3), p.196-207

2019

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The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply

Molecular genetics and metabolism reports, 2015-09, Vol.4 (C), p.62-67

2015

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Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

Molecular genetics and metabolism reports, 2015-12, Vol.5 (C), p.36-41

2015

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Inborn errors of metabolism

Journal of pediatric endocrinology & metabolism : JPEM, 2020-01, Vol.33 (1), p.1

2020

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Lebenslange Disziplin für eine gute Prognose

Pädiatrie : Kinder- und Jugendmedizin hautnah, 2021-04, Vol.33 (2), p.32-39

2021

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The Clinical and Molecular Spectrum of GM1 Gangliosidosis

The Journal of pediatrics, 2019-12, Vol.215, p.152-157.e3

2019

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Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency

Neuropediatrics, 2020-02, Vol.51 (1), p.53

2020

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Ten years of specialized adult care for phenylketonuria - a single-centre experience

Orphanet journal of rare diseases, 2016-03, Vol.11 (1), p.27-27, Article 27

2016

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Newborn screening of metabolic disorders

Journal of pediatric endocrinology & metabolism : JPEM, 2016-01, Vol.29 (1), p.1

2016

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

American journal of human genetics, 2019-07, Vol.105 (1), p.213-220

2019

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Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism

Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

Psychological well‐being of early and continuously treated phenylketonuria patients

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

Effect of Fish Oil Supplementation on Fatty Acid Status, Coordination, and Fine Motor Skills in Children with Phenylketonuria

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

Comparison of bloodstream fatty acid composition from African-American women at gestation, delivery, and postpartum

Ernährungstherapie bei angeborenen Erkrankungen des Aminosäurestoffwechsels

The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply

Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

Inborn errors of metabolism

Lebenslange Disziplin für eine gute Prognose

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency

Ten years of specialized adult care for phenylketonuria - a single-centre experience

Newborn screening of metabolic disorders

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

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