Specific Ultrasonographic Features of Perinatal Lethal Hypophosphatasia
- Author
- ZANKI, Andreas1 ; MORNET, Etienne2 ; WONG, Shell3
[1] Genetic Health Queensland, Royal Children's Hospital, University of Queensland, Brisbane, Australia
[2] Laboratoire SESEP, Centre Hospitalier de Versailles, Le Chesnay, France
[3] Maternal Fetal Medicine Unit, Mater Mothers' Hospital, University of Queensland, Brisbane, Australia - Source
American journal of medical genetics. Part A. 2008, Vol 146, Num 9, pp 1200-1204, 5 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- achondrogenesis bone dysplasia hypochondrogenesis hypophosphatasia lethal osteogenesis imperfecta prenatal diagnosis ultrasound
- Keyword (fr)
- Achondrogénèse Alkaline phosphatase Diagnostic prénatal Dysplasie osseuse Echographie Exploration ultrason Hypophosphatasie Maladie héréditaire Nouveau né Ostéogenèse imparfaite Périnatal Ultrason Enzyme Enzymopathie Esterases Homme Hydrolases Maladie métabolique Ostéochondrodysplasie Pathologie du système ostéoarticulaire Phosphoric monoester hydrolases
- Keyword (en)
- Achondrogenesis Alkaline phosphatase Prenatal diagnosis Bone dysplasia Echography Sonography Hypophosphatasia Genetic disease Newborn Osteogenesis imperfecta Perinatal Ultrasound Enzyme Enzymopathy Esterases Human Hydrolases Metabolic diseases Osteochondrodysplasia Diseases of the osteoarticular system Phosphoric monoester hydrolases
- Keyword (es)
- Acondrogénesis Alkaline phosphatase Diagnóstico prenatal Displasia ósea Ecografía Exploración ultrasonido Hipofosfatasia Enfermedad hereditaria Recién nacido Osteogénesis imperfecta Perinatal Ultrasonido Enzima Enzimopatía Esterases Hombre Hydrolases Metabolismo patología Osteocondrodisplasia Sistema osteoarticular patología Phosphoric monoester hydrolases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Medical genetics Metabolic diseases Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20311194
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.32202 
https://dx.doi.org/10.1002/ajmg.a.32202
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