Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

Journal of Bone and Mineral Research

Volumn 26, Issue 10, 2011, Pages 2389-2398

  Wenkert, Deborah ^a   McAlister, William H ^b   Coburn, Stephen P ^c   Zerega, Janice A ^a   Ryan, Lawrence M ^d   Ericson, Karen L ^c   Hersh, Joseph H ^e   Mumm, Steven ^a,f   Whyte, Michael P ^a,f  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b ST LOUIS CHILDREN S HOSPITAL   (United States)

^c INDIANA UNIVERSITY PURDUE UNIVERSITY FORT WAYNE   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

^e University of Louisville School of Medicine   (United States)

^f BARNES JEWISH HOSPITAL   (United States)

Author keywords

alkaline phosphatase; metabolic bone disease; prenatal diagnosis; rickets; skeletal dysplasia

Indexed keywords

ALKALINE PHOSPHATASE ISOENZYME;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BENIGN PRENATAL HYPOPHOSPHATASIA; BONE BOWING; BONE MINERALIZATION; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE CARRIER; DISEASE SEVERITY; FETAL CROWDING; FETUS DISEASE; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; INFANT; NONHUMAN; PERINATAL PERIOD; PHENOTYPE; PRENATAL PERIOD; PRESCHOOL CHILD; REVIEW; SCHOOL CHILD; SIBLING; THIRD TRIMESTER PREGNANCY;

ALKALINE PHOSPHATASE; BONE AND BONES; FEMALE; HUMANS; HYPOPHOSPHATASIA; INFANT; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS; ULTRASONOGRAPHY, PRENATAL;

EID: 80053176676     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.454     Document Type: Review

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