Hyperuricemia (Lesch-Nyhan Disease)

Autor: William Nyhan

Publikováno v: Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, Assessment, and Treatment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b55a06a2675d1dde308013d93cc49c99
https://doi.org/10.1093/acprof:oso/9780199398911.003.0057

Atlas of Inherited Metabolic Diseases 3E

Autor: William Nyhan, Georg Hoffmann, Bruce Barshop, Aida Al-Aqeel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a6c67d8174025af03903f26d0056ee44
https://doi.org/10.1201/b15310

Atlas of Metabolic Diseases Second edition

Autor: William Nyhan, Bruce Barshop, Pinar Ozand

Publikováno v: Atlas of Metabolic Diseases Second edition

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::037f5eee87f381bef3c4a9b7fca67389
https://doi.org/10.1201/b13565

The effects of alanine ingestion on metabolic responses to exercise in cyclists.

Autor: Janet Klein, William Nyhan, Mark Kern

Publikováno v: Amino Acids; Oct2009, Vol. 37 Issue 4, p673-680, 8p

Citrullinemia

Autor: Julian Leibowitz, Jess Thoene, Elaine Spector, William Nyhan

Publikováno v: Virchows Archiv. A, Pathological anatomy and histology. 377(3)

The pathological findings in two cases of neonatal citrullinemia are reported. One patient survived for eight months with treatment using alpha keto-analogues of essential amino acids. The untreated patient expired at eight days of age. Necropsy find

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::541b0f38c476edd109ef05341abffb93
https://pubmed.ncbi.nlm.nih.gov/148153