Prosaposin deficiency : a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient
- Author
- ELLEDER, M1 ; JERABKOVA, M1 ; HARZER, K6 ; BEFEKADU, A1 ; HREBICEK, M1 ; BEMA, L1 ; LEDVINOVA, J1 ; HULKOVA, H1 ; ROSEWICH, H2 ; SCHYMLK, N3 ; PATON, B. C4 5
[1] Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine, Prague, Czech Republic
[2] Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany
[3] Department of Pathology and Neuropathology, Klinikum Lippe-Detmold, Detmold, Germany
[4] Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia
[5] Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia
[6] Department of Neuropediatrics and Child Development, Universitats -Kinderklinik, Tübingen, Germany - Source
Neuropediatrics. 2005, Vol 36, Num 3, pp 171-180, 10 p ; ref : 45 ref
- CODEN
- NRPDDB
- ISSN
- 0174-304X
- Scientific domain
- Neurology; Pediatrics
- Publisher
- Thieme, Stuttgart
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Prosaposin mutation saposin sphingolipid loading tests sphingolipid storage
- Keyword (fr)
- Déficit Epreuve charge Lipide Mutation Nouveau né Néonatal Stockage Système nerveux pathologie Thésaurismose Homme
- Keyword (en)
- Deficiency Loading test Lipids Mutation Newborn Neonatal Storage Nervous system diseases Storage disease Human
- Keyword (es)
- Déficiencia Prueba carga Lípido Mutación Recién nacido Neonatal Almacenamiento Sistema nervioso patología Tesaurosis Hombre
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16862986
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
10.1055/s-2005-865608 
https://dx.doi.org/10.1055/s-2005-865608
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