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A proposed nosology of inborn errors of metabolism

Genetics in medicine, 2019-01, Vol.21 (1), p.102-106

2019

Volltextzugriff (PDF)

Tetrahydrobiopterin: biochemistry and pathophysiology

Biochemical journal, 2011-09, Vol.438 (3), p.397-414

2011

Volltextzugriff (PDF)

Phenylketonuria

Nature reviews. Disease primers, 2021-05, Vol.7 (1), p.36-36, Article 36

2021

Volltextzugriff (PDF)

Phenylketonuria

The Lancet (British edition), 2010-10, Vol.376 (9750), p.1417-1427

2010

Volltextzugriff (PDF)

Genetics of Phenylketonuria: Then and Now

Human mutation, 2016-06, Vol.37 (6), p.508-515

Blau, Nenad

2016

Volltextzugriff (PDF)

Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases

Molecular genetics and metabolism, 2019-06, Vol.127 (2), p.117-121

2019

Volltextzugriff (PDF)

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

Human mutation, 2006-09, Vol.27 (9), p.870-878

2006

Volltextzugriff (PDF)

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.87-95

2021

Volltextzugriff (PDF)

Laboratory Guide to the Methods in Biochemical Genetics

1. Aufl., 2008

Volltextzugriff (PDF)

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Second edition, 2022

Volltextzugriff (PDF)

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Molecular genetics and metabolism, 2011, Vol.104, p.S2-S9

2011

Volltextzugriff (PDF)

Key European guidelines for the diagnosis and management of patients with phenylketonuria

The lancet. Diabetes & endocrinology, 2017-09, Vol.5 (9), p.743-756

2017

Volltextzugriff (PDF)

Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108150-108150, Article 108150

Blau, Nenad

2024

Volltextzugriff (PDF)

DNAJC12 and dopa‐responsive nonprogressive parkinsonism

Annals of neurology, 2017-10, Vol.82 (4), p.640-646

2017

Volltextzugriff (PDF)

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.2-3

Blau, Nenad

2008

Volltextzugriff (PDF)

Tetrahydrobiopterin biosynthesis, regeneration and functions

Biochemical journal, 2000-04, Vol.347 Pt 1 (1), p.1-16

2000

Volltextzugriff (PDF)

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

Human mutation, 2013-07, Vol.34 (7), p.927-936

2013

Volltextzugriff (PDF)

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model

Scientific reports, 2016-10, Vol.6 (1), p.35794-35794, Article 35794

2016

Volltextzugriff (PDF)

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

Stem cell research, 2017-04, Vol.20 (C), p.38-41

2017

Volltextzugriff (PDF)

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

Frontiers in neurology, 2018-12, Vol.9, p.1016-1016

2018

Volltextzugriff (PDF)

Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100500-100500, Article 100500

2019

Volltextzugriff (PDF)

Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias

Expert opinion on drug metabolism & toxicology, 2013-09, Vol.9 (9), p.1207-1218

Blau, Nenad

2013

Volltextzugriff (PDF)

Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

Gene, 2015-04, Vol.559 (2), p.144-148

2015

Volltextzugriff (PDF)

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101023, Article 101023

2024

Volltextzugriff (PDF)

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11

Molecular genetics and metabolism, 2012-08, Vol.106 (4), p.403-411

2012

Volltextzugriff (PDF)

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A proposed nosology of inborn errors of metabolism

Tetrahydrobiopterin: biochemistry and pathophysiology

Phenylketonuria

Phenylketonuria

Genetics of Phenylketonuria: Then and Now

Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses

Laboratory Guide to the Methods in Biochemical Genetics

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Key European guidelines for the diagnosis and management of patients with phenylketonuria

Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency

DNAJC12 and dopa‐responsive nonprogressive parkinsonism

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU

Tetrahydrobiopterin biosynthesis, regeneration and functions

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers

Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias

Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11

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