AUDIOMETRIC EVIDENCE FOR 2 FORMS OF X-LINKED HYPOPHOSPHATEMIA IN HUMANS, APPARENT COUNTERPARTS OF HYP AND GY MUTATIONS IN MOUSE

被引：34
作者：
BONEH, A
READE, TM
SCRIVER, CR
RISHIKOF, E
机构：
[1] MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV MED GENET,DE BELLE LAB BIOCHEM GENET,2300 TUPPER ST,MONTREAL H3H 1P3,QUEBEC,CANADA
[2] MONTREAL CHILDRENS HOSP,MRC,MED GENET GRP,MONTREAL H3H 1P3,QUEBEC,CANADA
[3] MONTREAL CHILDRENS HOSP,DEPT AUDIOL,MONTREAL H3H 1P3,QUEBEC,CANADA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1987年 / 27卷 / 04期
关键词：
D O I：
10.1002/ajmg.1320270434
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：997 / 1003
页数：7
相关论文
共 13 条
[1]   X-LINKED HYPOPHOSPHATEMIA - EFFECT OF CALCITRIOL ON RENAL HANDLING OF PHOSPHATE, SERUM PHOSPHATE, AND BONE MINERALIZATION [J].
COSTA, T ;
MARIE, PJ ;
SCRIVER, CR ;
COLE, DEC ;
READE, TM ;
NOGRADY, B ;
GLORIEUX, FH ;
DELVIN, EE .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1981, 52 (03) :463-472
[2]   IMPAIRED HEARING IN X-LINKED HYPOPHOSPHATEMIC (VITAMIN-D-RESISTANT) OSTEOMALACIA [J].
DAVIES, M ;
KANE, R ;
VALENTINE, J .
ANNALS OF INTERNAL MEDICINE, 1984, 100 (02) :230-232
[3]   HYPOPHOSPHATEMIA - MOUSE MODEL FOR HUMAN FAMILIAL HYPOPHOSPHATEMIC (VITAMIN-D-RESISTANT) RICKETS [J].
EICHER, EM ;
SOUTHARD, JL ;
SCRIVER, CR ;
GLORIEUX, FH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1976, 73 (12) :4667-4671
[4]   LOSS OF A PARATHYROID HORMONE-SENSITIVE COMPONENT OF PHOSPHATE TRANSPORT IN X-LINKED HYPOPHOSPHATEMIA [J].
GLORIEUX, F ;
SCRIVER, CR .
SCIENCE, 1972, 175 (4025) :997-&
[5]   BONE RESPONSE TO PHOSPHATE SALTS, ERGOCALCIFEROL, AND CALCITRIOL IN HYPOPHOSPHATEMIC VITAMIN-D-RESISTANT RICKETS [J].
GLORIEUX, FH ;
MARIE, PJ ;
PETTIFOR, JM ;
DELVIN, EE .
NEW ENGLAND JOURNAL OF MEDICINE, 1980, 303 (18) :1023-1031
[6]  
GLORIEUX FH, 1972, NEW ENGL J MED, V287, P481, DOI 10.1056/NEJM197209072871003
[7]   HEALING OF BONE-DISEASE IN X-LINKED HYPOPHOSPHATEMIC RICKETS OSTEOMALACIA - INDUCTION AND MAINTENANCE WITH PHOSPHORUS AND CALCITRIOL [J].
HARRELL, RM ;
LYLES, KW ;
HARRELSON, JM ;
FRIEDMAN, NE ;
DREZNER, MK .
JOURNAL OF CLINICAL INVESTIGATION, 1985, 75 (06) :1858-1868
[8]  
JONAS AJ, 1986, PEDIATR RES, V20, pA266
[9]   PARATHYROID-HORMONE EFFECTS ON SERUM 1,25-DIHYDROXYVITAMIN-D LEVELS IN PATIENTS WITH X-LINKED HYPOPHOSPHATEMIC RICKETS - EVIDENCE FOR ABNORMAL 25-HYDROXYVITAMIN D-1-HYDROXYLASE ACTIVITY [J].
LYLES, KW ;
DREZNER, MK .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1982, 54 (03) :638-644
[10]  
LYON MF, 1986, P NATL ACAD SCI US, V83, P4866
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