Vitamin D-dependent rickets type 1: A Rare, but treatable, cause of severe hypotonia in infancy

Journal of Child Neurology

Volumn 26, Issue 12, 2011, Pages 1571-1575

  Yan, Yun ^a   Calikoglu, Ali S ^a   Jain, Nina ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

growth failure; hypotonia; renal tubular dysfunction; rickets; Vitamin D 1 hydroxylase mutation

Indexed keywords

25 HYDROXYVITAMIN D 1ALPHA HYDROXYLASE; ALKALINE PHOSPHATASE; ALKALINE PHOSPHATASE BONE ISOENZYME; CALCITRIOL; CALCIUM CARBONATE; CYTOCHROME P450; PARATHYROID HORMONE; UNCLASSIFIED DRUG; VITAMIN D;

AUTOSOMAL RECESSIVE DISORDER; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CONFERENCE PAPER; DISEASE SEVERITY; DNA SEQUENCE; EXON; FAILURE TO THRIVE; GENE MUTATION; HUMAN; HYPOCALCEMIA; HYPOMAGNESEMIA; HYPOPHOSPHATEMIA; KIDNEY TUBULE DISORDER; MALE; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCLE WEAKNESS; OSTEOPENIA; PHOSPHATE BLOOD LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; RICKETS; SKELETON MALFORMATION; STATISTICAL SIGNIFICANCE;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; DEVELOPMENTAL DISABILITIES; HUMANS; INFANT; KIDNEY DISEASES; MALE; MUSCLE HYPOTONIA; RICKETS; VITAMIN D; VITAMIN D DEFICIENCY;

EID: 82455168052     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811411190     Document Type: Conference Paper

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