Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred

Bone

Volumn 50, Issue 5, 2012, Pages 1100-1106

  Yu, Y ^a   Sanderson, S R ^b   Reyes, M ^a   Sharma, A ^a   Dunbar, N ^c   Srivastava, T ^d   Juppner H ^a   Bergwitz, C ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HORIZON HEALTH NETWORK   (Canada)

^c BAYSTATE MEDICAL CENTER   (United States)

^d UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

Author keywords

1,25(OH) 2 vitamin D; HHRH; Long term follow up; NaPi IIc; SLC34A3

Indexed keywords

1,25 DIHYDROXYERGOCALCIFEROL; PARATHYROID HORMONE; PHOSPHATE;

ADOLESCENT; ADULT; ARTICLE; BONE DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DRUG DOSE INCREASE; DRUG EFFICACY; FAMILY STUDY; FEMALE; FOLLOW UP; GENE; HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA; HUMAN; IDIOPATHIC HYPERCALCIURIA; INTRON; KIDNEY CALCIFICATION; LONG TERM CARE; MALE; MOLECULAR PATHOLOGY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PARATHYROID HORMONE BLOOD LEVEL; PRESCHOOL CHILD; SCHOOL CHILD; SLC34A3 GENE; TREATMENT DURATION; VITAMIN BLOOD LEVEL;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FOLLOW-UP STUDIES; HUMANS; HYPERCALCIURIA; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MUTATION; PEDIGREE; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC; TIME FACTORS;

EID: 84863408166     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.02.015     Document Type: Article

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