Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications-Reference-Cited by-同舟云学术

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Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

Published:2002-07-04 Issue:2 Volume:111 Page:161-165
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Yorifuji Tohru,Kawai Masahiko,Muroi Junko,Mamada Mitsukazu,Kurokawa Keiji,Shigematsu Yosuke,Hirano Satoko,Sakura Nobuo,Yoshida Ichiro,Kuhara Tomiko,Endo Fumio,Mitsubuchi Hiroshi,Nakahata Tatsutoshi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0761-z.pdf

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China;2024-01-16

2. Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study;Saudi Journal of Medicine & Medical Sciences;2024-01

3. Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations;Saudi Journal of Biological Sciences;2022-12

4. Successful heart transplantation in a patient with adolescent-onset dilated cardiomyopathy secondary to propionic acidaemia: a case report;European Heart Journal - Case Reports;2022-05-13

5. Organic Acidemias;Nutrition Management of Inherited Metabolic Diseases;2022

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