Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature review

Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary folate malabsorption. Method: Clinical features, laboratory examinations, treatment and SLC46A1 gene of two cases were studied. Reports on hereditary folate malabsorption...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 54(2016), 12 vom: 02. Dez., Seite 931-935
1. Verfasser: Zhang, Y (VerfasserIn)
Weitere Verfasser: Wang, Q, Li, D X, Liu, Y P, Song, J Q, Li, M Q, Qin, Y P, Yang, Y L
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports Journal Article Review Proton-Coupled Folate Transporter SLC46A1 protein, human Folic Acid 935E97BOY8 Leucovorin Q573I9DVLP