Perinatal-lethal Gaucher disease
- Author
- MIGNOT, C1 ; GELOT, A2 ; FARGIER, P11 ; COSTIL, J12 ; JOSSET, P13 ; ROUME, J14 ; VANIER, M. T15 ; MAIRE, I16 ; BILLETTE DE VILLEMEUR, T1 ; BESSIERES, B3 ; DAFFOS, F4 ; VOYER, M5 ; MENEZ, F6 ; FALLET BIANCO, C7 ; ODENT, S8 ; LE DUFF, D9 ; LOGET, P10
[1] Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France
[2] Neuropathologie, Hôpital Armand Trousseau, Paris, France
[3] Fœtopathologie, Institut de Puériculture, Paris, France
[4] Diagnostic Prénatal et Médecine Foetale, Institut de Puériculture, Paris, France
[5] Service de Néonatologie, Institut de Puériculture, Paris, France
[6] Fœtopathologie, Hôpital Necker Enfants Malades, Paris, France
[7] Anatomopathologie, Hôpital Sainte-Anne, Paris, France
[8] Génétique Médicale CHU Rennes, Rennes, France
[9] Cabinet d'échographie, Quimper, Rennes, France
[10] Fœtopathologie, Laboratoire Richier, Rennes, France
[11] Gynécologie Obstétrique, Clinique Michelet, Saint-Etienne, France
[12] Réanimation Pédiatrique, Hôpital Armand Trousseau, Paris, France
[13] Anatomopathologie, Hôpital Armand Trousseau, Paris, France
[14] Génétique Clinique, Centre Hospitalier de Poissy-Saint-Germain, Poissy, France
[15] INSERM U189, Ecole de Médecine Lyon-Sud, Oullins, France
[16] Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2003, Vol 120A, Num 3, pp 338-344, 7 p ; ref : 40 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Gaucher disease fetus hydrops fetalis neonate
- Keyword (fr)
- Analyse statistique Anasarque foetoplacentaire Caractère létal Diagnostic Enzymopathie Foetus Homme Périnatal Rétrospective Sphingolipidose héréditaire Gaucher Encéphale pathologie Foetus pathologie Gestation pathologie Lipoïdose Maladie héréditaire Métabolisme pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Statistical analysis Hydrops fetalis Lethal character Diagnosis Enzymopathy Fetus Human Perinatal Retrospective Gaucher disease Cerebral disorder Fetal diseases Pregnancy disorders Lipoidosis Genetic disease Metabolic diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Análisis estadístico Anasarca fetoplacentaria Carácter letal Diagnóstico Enzimopatía Feto Hombre Perinatal Retrospectiva Esfingolipidosis hereditaria Gaucher Encéfalo patología Feto patología Gestación patología Lipoidosis Enfermedad hereditaria Metabolismo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20F Pregnancy. Fetus. Placenta / 002B20F02 Diseases of mother, fetus and pregnancy
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Gynecology. Andrology. Obstetrics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14938440
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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