William Nyhan, M.D.

Publications

The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL

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

Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
Nyhan WL, McGowan K, Barshop BA

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Nguyen KV, Naviaux RK, Nyhan WL

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan WL

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.
Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL

Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.
Nguyen KV, Nyhan WL

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Nguyen KV, Naviaux RK, Nyhan WL

Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature.
Christy A, Nyhan W, Wilson J

Hereditary Orotic Aciduria and the Excretion of Orotidine.
Nyhan WL, Gangoiti JA

Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
Nguyen KV, Nyhan WL

A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.
Khasnavis T, Reiner G, Sommerfeld B, Nyhan WL, Chipkin R, Jinnah HA

Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
Auler K, Broock R, Nyhan WL

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA

Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
Nguyen KV, Nyhan WL

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA, Lesch-Nyhan Disease International Study Group

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A

Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.
Sharma K, Karl B, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Pu M, Sharma S, You YH, Wang L, Diamond-Stanic M, Lindenmeyer MT, Forsblom C, Wu W, Ix JH, Ideker T, Kopp JB, Nigam SK, Cohen CD, Groop PH, Barshop BA, Natarajan L, Nyhan WL, Naviaux RK

Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.
Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U

Identification of novel mutations in the human HPRT gene.
Nguyen KV, Nyhan WL

Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
Nguyen KV, Naviaux RK, Paik KK, Nyhan WL

Long-term follow-up of four patients affected by HHH syndrome.
Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE

Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP

See the full listing of this physician's publications on PubMed, a service of the National Library of Medicine.

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