A Japanese case of β-ureidopropionase deficiency with dysmorphic features-Reference-Cited by-同舟云学术

A Japanese case of β-ureidopropionase deficiency with dysmorphic features

Published:2017-01 Issue:1 Volume:39 Page:58-61
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Akiyama Tomoyuki,Shibata Takashi,Yoshinaga Harumi,Kuhara Tomiko,Nakajima Yoko,Kato Takema,Maeda Yasuhiro,Ohse Morimasa,Oka Makio,Kageyama Misao,Kobayashi Katsuhiro

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. β-Ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients;van Kuilenburg;Biochim Biophys Acta,2012

2. Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G>A (p. R326Q) mutation;Nakajima;J Inherit Metab Dis,2014

3. Genetic analysis of the UPB1 gene in two new Chinese families with beta-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China;Shu;Childs Nerv Syst,2014

4. A Korean case of beta-ureidopropionase deficiency presenting with intractable seizure, global developmental delay, and microcephaly;Lee;JIMD Rep,2015

5. Beta-ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine;Moolenaar;Magn Reson Med,2001

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