Clues and challenges in the diagnosis of intermittent maple syrup urine disease-Reference-Cited by-同舟云学术

Clues and challenges in the diagnosis of intermittent maple syrup urine disease

Published:2020-06 Issue:6 Volume:63 Page:103901
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Pode-Shakked Naomi,Korman Stanley H.,Pode-Shakked Ben,Landau Yuval,Kneller Katya,Abraham Smadar,Shaag Avraham,Ulanovsky Igor,Daas Suha,Saraf-Levy Talya,Reznik-Wolf Haike,Vivante Asaf,Pras Elon,Almashanu Shlomo,Anikster Yair

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

1. Intermittent maple syrup urine disease: two case reports;Axler;Pediatrics,2014

2. Maple syrup urine disease: mechanisms and management;Blackburn;Appl. Clin. Genet.,2017

3. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype;Chuang;J. Biol. Chem.,2004

4. Maple syrup urine disease: mutation analysis in Turkish patients;Dursun;J. Inherit. Metab. Dis.,2002

5. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population;Edelmann;Am. J. Hum. Genet.,2001

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