Literature DB >> 30806893

A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency.

Vykuntaraju K Gowda1,2, Balamurugan Nagarajan3, Varunvenkat M Srinivasan3, Asha Benakappa4.   

Abstract

Entities:  

Year:  2019        PMID： 30806893     DOI： 10.1007/s12098-019-02900-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


× No keyword cloud information.
  3 in total

1.  GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

Authors:  A Niederwieser; N Blau; M Wang; P Joller; M Atarés; J Cardesa-Garcia
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

2.  Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.

Authors:  E W Naylor; D Ennis; A G Davidson; L T Wong; D A Applegarth; A Niederwieser
Journal:  Pediatrics       Date:  1987-03       Impact factor: 7.124

3.  Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.

Authors:  Hiroki Sato; Mitsugu Uematsu; Wakaba Endo; Tojo Nakayama; Tomoko Kobayashi; Naomi Hino-Fukuyo; Osamu Sakamoto; Haruo Shintaku; Shigeo Kure
Journal:  Brain Dev       Date:  2013-05-06       Impact factor: 1.961
  3 in total
  1 in total

1.  Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.

Authors:  Yun Chen; Kaiyu Liu; Zailan Yang; Yaozhou Wang; Hao Zhou
Journal:  Front Genet       Date:  2022-07-13       Impact factor: 4.772
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.