Clinical manifestations and growth of patients with urea cycle disorders in Japan.

doi:10.1038/jhg.2016.17

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Article

Clinical manifestations and growth of patients with urea cycle disorders in Japan.

Journal of human genetics - 1 Jul 2016

Nakamura Kimitoshi, Kido Jun, Matsumoto Shirou, Mitsubuchi Hiroshi, Endo Fumio

Abstract excerpt

We have previously examined the clinical manifestations, treatments and prognosis of 177 patients with urea cycle disorders (UCDs) from January 1999 to March 2009 in Japan. In this study, we investigated the incidence of clinical manifestations in different peak blood ammonia level at onset in UCD patients, and examined the growth of OTCD (ornithine transcarbamylase deficiency) patients. The UCD patients who had...

Topics

Adolescent
Body Height
Child
Child, Preschool
Female
Growth and Development
Humans
Incidence
Infant
Japan
Male
Ornithine Carbamoyltransferase Deficiency Disease
Phenotype
Public Health Surveillance
Urea Cycle Disorders, Inborn

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Open in PubMed

Identifiers

PMID: 26935171
DOI: 10.1038/jhg.2016.17

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