Results 131 to 140 of about 11,541 (279)

First person – Hui-Ying Tsai and Shih-Cheng Wu

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Natural Osmolyte Trimethylamine N-Oxide Corrects Assembly Defects of Mutant Branched-chain α-Ketoacid Decarboxylase in Maple Syrup Urine Disease [PDF]

, 2001
Jiu-Li Song, David Chuang
openalex   +1 more source

Maple Syrup Urine Disease [PDF]

Pediatrics & Therapeutics, 2016
Jorge Alvarez, Gerardo Rivera Silva, Héctor R Martínez Menchaca   +2 more
openaire   +2 more sources

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

Stem Cell Research, 2019
Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral
Yue Li, Haiyan Zhang, Beibei Yan, Yanyan Ma, Xiaomeng Yang, Jingyun Guan, Yuqiang Lv, Min Gao, Jian Ma, Zhongtao Gai, Yi Liu   +10 more
doaj  

Whole-Body l-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease [PDF]

, 2001
Peter Schadewaldt, Annette Bodner-Leidecker, Hans‐Werner Hammen, U. Wendel   +3 more
openalex   +1 more source

Biochemical Basis of Type IB (E1β) Mutations in Maple Syrup Urine Disease [PDF]

, 2001
Richard Wynn, Jacinta L. Chuang, Claude Sansaricq, Hanna Mandel, David Chuang   +4 more
openalex   +1 more source

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Molecular Genetics and Metabolism Reports, 2018
Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar   +3 more
doaj  

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease [PDF]

, 2003
Marco Henneke, Nadine Flaschker, Christoph Helbling, Martina Müller‐Nurasyid, Peter Schadewaldt, Jutta Gärtner, U. Wendel   +6 more
openalex   +1 more source

Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients [PDF]

, 2004
Jacinta L. Chuang, Richard Wynn, C. Moss, Jiu-li Song, Jun Li, Nibal Awad, Hanna Mandel, David Chuang   +7 more
openalex   +1 more source