Výsledky vyhledávání - "William L, Nyhan"

Akademický článek

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

Autor: Gerard T. Berry, Elizabeth D. Blume, Ann Wessel, Tajinder Singh, Leah Hecht, Deborah Marsden, Inderneel Sahai, Scott Elisofon, Michael Ferguson, Heung Bae Kim, David J. Harris, Didem Demirbas, Mohammed Almuqbil, William L. Nyhan

Publikováno v: JIMD Reports, Vol 54, Iss 1, Pp 3-8 (2020)

Abstract Cardiomyopathy is a frequent complication of propionic acidemia (PA). It is often fatal, and its occurrence is largely independent of classic metabolic treatment modalities. Liver transplantation (LT) is a treatment option for severe PA as t

Externí odkaz: https://doaj.org/article/ab2641ca9a6d489a88e3074f2d6a20bb

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

Autor: Ann Wessel, Scott A. Elisofon, Mohammed Almuqbil, David J. Harris, Michael A. J. Ferguson, Didem Demirbas, William L. Nyhan, Tajinder P. Singh, Leah Hecht, Elizabeth D. Blume, Heung Bae Kim, Inderneel Sahai, Deborah Marsden, Gerard T. Berry

Publikováno v: JIMD Reports, Vol 54, Iss 1, Pp 3-8 (2020)
JIMD Reports

Cardiomyopathy is a frequent complication of propionic acidemia (PA). It is often fatal, and its occurrence is largely independent of classic metabolic treatment modalities. Liver transplantation (LT) is a treatment option for severe PA as the liver

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea4d108f2989452676e065561955f51
https://doaj.org/article/ab2641ca9a6d489a88e3074f2d6a20bb

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

Autor: Robert K. Naviaux, William L. Nyhan, Khue Vu Nguyen

Publikováno v: Nucleosides, Nucleotides & Nucleic Acids. 39:905-922

Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. Despite having been characterized over 50 years ago, it remain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6767fd9c6b560275b846fd0819d69e72
https://doi.org/10.1080/15257770.2020.1714653

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