NEURONOPATHIC LYSOSOMAL STORAGE DISEASES: CLINICAL AND PATHOLOGIC FINDINGS
- Author
- PRADA, Carlos E1 2 ; GRABOWSKI, Gregory A1
[1] Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
[2] Center for Genomic Medicine and Metabolism, Cardiovascular Foundation of Colombia, Floridablanca, Colombia - Issue title
- Neurodevelopmental Issues in Inborn Errors of Metabolism
- Author (monograph)
- ARNOLD, Georgianne L (Editor)1 ; VOCKLEY, Jerry (Editor)1
[1] Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States - Source
Developmental disabilities research reviews. 2013, Vol 17, Num 3-4, pp 226-246, 21 p ; ref : 3 p
- ISSN
- 1940-5510
- Scientific domain
- Pediatrics; Psychology, psychopathology, psychiatry
- Publisher
- Wiley-Blackwell, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- autophagy cell death inflammation lysosomal storage diseases neuronopathic disease pathogenesis
- Keyword (fr)
- Article synthèse Autophagie Enzymopathie Forme clinique Homme Inflammation Maladie dégénérative Mort cellulaire Neuropathie Pathogénie Pathologie des lysosomes Trouble du développement Typologie Maladie héréditaire Maladie métabolique Pathologie du système nerveux
- Keyword (en)
- Review Autophagy Enzymopathy Clinical form Human Inflammation Degenerative disease Cell death Neuropathy Pathogenesis Lysosomal storage disease Developmental disorder Typology Genetic disease Metabolic diseases Nervous system diseases
- Keyword (es)
- Artículo síntesis Autofagia Enzimopatía Forma clínica Hombre Inflamación Enfermedad degenerativa Muerte celular Neuropatía Patogenia Lisosoma patología Trastorno desarrollo Tipología Enfermedad hereditaria Metabolismo patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18D Child clinical studies / 002B18D04 Developmental disorders / 002B18D04D Miscellaneous
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D04 Child clinical studies / 770-D04D Developmental disorders / 770-D04D04 Miscellaneous
- Discipline
- Metabolic diseases Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 27537123
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/ddrr.1116 
https://dx.doi.org/10.1002/ddrr.1116
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