The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1

Brain and Development

Volumn 37, Issue 1, 2015, Pages 163-167

  Wang, Qiao ^a   Li, Xiyuan ^a   Ding, Yuan ^a   Liu, Yupeng ^a   Qin, Yaping ^b   Yang, Yanling ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b Similan Clinic   (China)

Author keywords

Cerebral folate deficiency; Hereditary folate malabsorption; Intracranial calcification; Megaloblastic anemia; Proton coupled folate transporter; SLC46A1 gene

Indexed keywords

FOLIC ACID; GENOMIC DNA; HOMOCYSTEINE; PROTON COUPLED FOLATE TRANSPORTER; SLC46A1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CALCIFICATION; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CHINESE; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAM; FEMALE; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; FOLLOW UP; GENE MUTATION; HEAD CIRCUMFERENCE; HEREDITARY FOLATE MALABSORPTION; HUMAN; LIMB WEAKNESS; MAGNETIC RESONANCE ANGIOGRAPHY; MALABSORPTION; MEGALOBLASTIC ANEMIA; MENTAL DEVELOPMENT; METABOLIC DISORDER; MYOCLONUS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SEIZURE; ASIAN CONTINENTAL ANCESTRY GROUP; COMPLICATION; GENETICS; ONSET AGE; PATHOLOGY; POINT MUTATION; SEIZURES;

AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; FEMALE; FOLIC ACID; FOLIC ACID DEFICIENCY; HUMANS; MALABSORPTION SYNDROMES; POINT MUTATION; PROTON-COUPLED FOLATE TRANSPORTER; SEIZURES;

EID: 84919418572     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.01.010     Document Type: Article

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