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Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype
AIMS—To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L PMM2 genotype. METHODS—Clinical data on 25 patients (mean age 7.6 years, range 0-19) were analysed. RESULTS—All patients had an early p...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Group
2001
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1718926/ https://ncbi.nlm.nih.gov/pubmed/11517108 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.85.3.236 |
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