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...
Ausführliche Beschreibung
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
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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 |