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- Hypophosphatasia abstract "Hypophosphatasia is a rare and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise, to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 200 genetic mutations identified to date in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in milder forms. The prevalence of hypophosphatasia is not known. One study estimated the live birth incidence of severe forms to be 1:100,000.".
- Hypophosphatasia icd10 "E83.3".
- Hypophosphatasia icd9 "275.3".
- Hypophosphatasia meshId "D007014".
- Hypophosphatasia omim "146300".
- Hypophosphatasia wikiPageExternalLink NBK1150.
- Hypophosphatasia wikiPageExternalLink www.hpp-ev.de.
- Hypophosphatasia wikiPageExternalLink www.hppchoosehope.org.
- Hypophosphatasia wikiPageExternalLink www.hypophosphatasia.com.
- Hypophosphatasia wikiPageExternalLink www.hypophosphatasie.com.
- Hypophosphatasia wikiPageExternalLink Mutation.html..
- Hypophosphatasia wikiPageExternalLink www.softbones.org.
- Hypophosphatasia wikiPageID "2590704".
- Hypophosphatasia wikiPageLength "24369".
- Hypophosphatasia wikiPageOutDegree "27".
- Hypophosphatasia wikiPageRevisionID "706990494".
- Hypophosphatasia wikiPageWikiLink ALPL.
- Hypophosphatasia wikiPageWikiLink Alkaline_phosphatase.
- Hypophosphatasia wikiPageWikiLink Asfotase_alfa.
- Hypophosphatasia wikiPageWikiLink Calvaruim.
- Hypophosphatasia wikiPageWikiLink Category:Enzyme_defects.
- Hypophosphatasia wikiPageWikiLink Category:Rare_diseases.
- Hypophosphatasia wikiPageWikiLink Choline.
- Hypophosphatasia wikiPageWikiLink Chondrocyte.
- Hypophosphatasia wikiPageWikiLink Deciduous_teeth.
- Hypophosphatasia wikiPageWikiLink Hypomineralization.
- Hypophosphatasia wikiPageWikiLink Hypoplasia.
- Hypophosphatasia wikiPageWikiLink Infant.
- Hypophosphatasia wikiPageWikiLink List_of_Latin_phrases_(V).
- Hypophosphatasia wikiPageWikiLink Metabolic_bone_disease.
- Hypophosphatasia wikiPageWikiLink Myelophthisic_anemia.
- Hypophosphatasia wikiPageWikiLink Ossification.
- Hypophosphatasia wikiPageWikiLink Osteoblast.
- Hypophosphatasia wikiPageWikiLink Osteoid.
- Hypophosphatasia wikiPageWikiLink Osteomalacia.
- Hypophosphatasia wikiPageWikiLink Pathognomonic.
- Hypophosphatasia wikiPageWikiLink Permanent_teeth.
- Hypophosphatasia wikiPageWikiLink Phosphorylethanolamine.
- Hypophosphatasia wikiPageWikiLink Prenatal_development.
- Hypophosphatasia wikiPageWikiLink Pyridoxal_phosphate.
- Hypophosphatasia wikiPageWikiLink Rickets.
- Hypophosphatasia wikiPageWikiLinkText "Hypophosphatasia".
- Hypophosphatasia wikiPageWikiLinkText "hypophosphatasia".
- Hypophosphatasia diseasesdb "6516".
- Hypophosphatasia emedicinesubj "ped".
- Hypophosphatasia emedicinetopic "1126".
- Hypophosphatasia icd "275.3".
- Hypophosphatasia icd "E83.3".
- Hypophosphatasia meshid "D007014".
- Hypophosphatasia name "Hypophosphatasia".
- Hypophosphatasia omim "146300".
- Hypophosphatasia wikiPageUsesTemplate Template:Cite_journal.
- Hypophosphatasia wikiPageUsesTemplate Template:Copy_edit.
- Hypophosphatasia wikiPageUsesTemplate Template:Infobox_disease.
- Hypophosphatasia wikiPageUsesTemplate Template:Mineral_metabolic_pathology.
- Hypophosphatasia wikiPageUsesTemplate Template:OMIM.
- Hypophosphatasia wikiPageUsesTemplate Template:OMIM2.
- Hypophosphatasia wikiPageUsesTemplate Template:Reflist.
- Hypophosphatasia wikiPageUsesTemplate Template:Underlinked.
- Hypophosphatasia subject Category:Enzyme_defects.
- Hypophosphatasia subject Category:Rare_diseases.
- Hypophosphatasia type Disease.
- Hypophosphatasia type Defect.
- Hypophosphatasia type Disorder.
- Hypophosphatasia type Thing.
- Hypophosphatasia type Q12136.
- Hypophosphatasia comment "Hypophosphatasia is a rare and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise, to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia.".
- Hypophosphatasia label "Hypophosphatasia".
- Hypophosphatasia sameAs Q1313510.
- Hypophosphatasia sameAs Hypophosphatasie.
- Hypophosphatasia sameAs Hypophosphatasie.
- Hypophosphatasia sameAs Ipofosfatasia.
- Hypophosphatasia sameAs Hipofosfatazja.
- Hypophosphatasia sameAs m.07q5fv.
- Hypophosphatasia sameAs Гипофосфатазия.
- Hypophosphatasia sameAs Q1313510.
- Hypophosphatasia sameAs 低磷酸酯脢症.
- Hypophosphatasia wasDerivedFrom Hypophosphatasia?oldid=706990494.
- Hypophosphatasia isPrimaryTopicOf Hypophosphatasia.
- Hypophosphatasia name "Hypophosphatasia".