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Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease

Journal of the American Society of Nephrology, 2013-11, Vol.24 (11), p.1901-1912

2013

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Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease

Neuroscience letters, 2017-03, Vol.643, p.52-58

2017

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Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Brain (London, England : 1878), 2014-05, Vol.137 (5), p.1282-1303

2014

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Atlas of Inherited Metabolic Diseases

Fourth edition, 2020

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Inherited Metabolic Diseases: A Clinical Approach

Second edition., 2016

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The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

JIMD reports, 2020-07, Vol.54 (1), p.3-8

2020

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Disorders of purine and pyrimidine metabolism

Molecular genetics and metabolism, 2005-09, Vol.86 (1), p.25-33

Nyhan, William L.

2005

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Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

Clinica chimica acta, 2019-12, Vol.499, p.13-15

2019

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Domino liver transplantation in maple syrup urine disease

Liver transplantation, 2006-05, Vol.12 (5), p.876-882

2006

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The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

Mutation research, 2000-10, Vol.463 (3), p.309-326

2000

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Long-term follow-up of four patients affected by HHH syndrome

Clinica chimica acta, 2012-07, Vol.413 (13-14), p.1151-1155

2012

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CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.422-427

2008

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Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.431-437

2015

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effects of alanine ingestion on metabolic responses to exercise in cyclists

Amino acids, 2009-10, Vol.37 (4), p.673-680

2009

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Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP)

Nucleosides, nucleotides & nucleic acids, 2020-06, Vol.39 (6), p.905-922

2020

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Lesch-Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members

Nucleosides, nucleotides & nucleic acids, 2012-08, Vol.31 (8), p.616-629

2012

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Hereditary Orotic Aciduria and the Excretion of Orotidine

Neuropediatrics, 2016-12, Vol.47 (6), p.408-409

2016

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Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

European journal of pediatrics, 2002-07, Vol.161 (7), p.377-379

2002

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Nature genetics, 2011-09, Vol.43 (9), p.883-886

2011

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A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene

Nucleosides, nucleotides & nucleic acids, 2017-05, Vol.36 (5), p.317-327

2017

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Chemical diagnosis of Lesch–Nyhan syndrome using gas chromatography-mass spectrometry detection

Journal of chromatography. B, 2003-07, Vol.792 (1), p.123-130

2003

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A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease

Molecular genetics and metabolism, 2016-04, Vol.117 (4), p.401-406

2016

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Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease

Nucleosides, nucleotides & nucleic acids, 2017-11, Vol.36 (11), p.704-711

2017

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Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome

Nucleosides, nucleotides & nucleic acids, 2016-08, Vol.35 (8), p.426-434

2016

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Developmental Disorder Associated with Increased Cellular Nucleotidase Activity

Proceedings of the National Academy of Sciences - PNAS, 1997-10, Vol.94 (21), p.11601-11606

1997

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Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease

Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease

Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Atlas of Inherited Metabolic Diseases

Inherited Metabolic Diseases: A Clinical Approach

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

Disorders of purine and pyrimidine metabolism

Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

Domino liver transplantation in maple syrup urine disease

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

Long-term follow-up of four patients affected by HHH syndrome

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

effects of alanine ingestion on metabolic responses to exercise in cyclists

Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP)

Lesch-Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members

Hereditary Orotic Aciduria and the Excretion of Orotidine

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene

Chemical diagnosis of Lesch–Nyhan syndrome using gas chromatography-mass spectrometry detection

A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease

Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome

Developmental Disorder Associated with Increased Cellular Nucleotidase Activity

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