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Anales de Pediatría (English Edition), ISSN 2341-2879, 06/2017, Volume 86, Issue 6, pp. 329 - 336
Training in autistic spectrum disorders is crucial in order to achieve an early diagnosis. However, the number of papers describing this training is limited.... 
Child psychiatry | Psiquiatría infantil | Autistic disorder | Terapéutica | Therapeutics | Pediatría | Knowledge | Health surveys | Paediatrics | Trastorno autístico | Conocimiento | Encuesta de salud
Journal Article
Clinical Genetics, ISSN 0009-9163, 2019, Volume 95, Issue 5, pp. 615 - 626
The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems,... 
non‐PMM2‐CDG | serum transferrin | next‐generation sequencing | congenital disorders of glycosylation | next-generation sequencing | non-PMM2-CDG | CDG | GENETICS & HEREDITY | Lipids | Genetic disorders | Diagnosis | Transferrin | Congenital diseases | Genetic analysis | Craniofacial syndromes | Glycosylation | Phosphomannomutase
Journal Article
Revista de neurologia, 02/2015, Volume 60, Issue 3, p. 108
Journal Article
Anales de Pediatria Continuada, ISSN 1696-2818, 03/2011, Volume 9, Issue 2, pp. 98 - 105
Journal Article
neurogenetics, ISSN 1364-6745, 05/2019, Volume 20, Issue 2, pp. 73 - 82
Celia’s encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before... 
Neuroimaging | Molecular modelling | Neurodegenerative diseases | Splicing | Transcription | Epilepsy | Encephalopathy | Fibroblasts | Lipodystrophy | Leukocytes | Children
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2016, Volume 11, Issue 7, p. e0158874
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2015, Volume 83, pp. 44 - 53
Abstract Celia's Encephalopathy (MIM # 615924 ) is a recently discovered fatal neurodegenerative syndrome associated with a new BSCL2 mutation (c.985C>T) that... 
Neurology | BSCL2 | Progressive encephalopathy | Oligomerization | Neurodegeneration | Intranuclear inclusions | Lipodystrophy | Phenotype rescue | Seipin | Celia's encephalopathy | CONGENITAL LIPODYSTROPHY | MECHANISMS | NEUROSCIENCES | PATHOGENESIS | INCLUSION-BODIES | MOTOR NEUROPATHY | MUTATION | GENE-EXPRESSION | PATIENT | DYSFUNCTION | STRESS | Protein Aggregates | Proteostasis Deficiencies - metabolism | Brain Diseases - metabolism | Humans | Brain Diseases - genetics | Proteostasis Deficiencies - pathology | Endoplasmic Reticulum - metabolism | GTP-Binding Protein gamma Subunits - genetics | Male | Brain - metabolism | Proteostasis Deficiencies - genetics | Brain Diseases - pathology | Adipocytes - metabolism | Proteomics | Brain - pathology | Adult | Female | Heterozygote | Aged | Mutation | Child | Oligomers | Nervous system diseases | Encephalopathy | Sugars | unclassified drug | Medical and Health Sciences | Medicin och hälsovetenskap | Article | Klinisk medicin | sucrose gradient | chromatin immunoprecipitation | BSCL2 gene | homozygosity | protein folding | priority journal | female | proadipocyte | human | molecular pathology | protein expression | neuropathology | Neurologi | protein protein interaction | cell death | human tissue | proteomics | gene | brain disease | Celia encephalopathy | human cell | protein localization | Clinical Medicine | heterozygosity | brain protein | controlled study | protein aggregation | brain tissue | protein determination | gene expression | male | degenerative disease
Journal Article
Journal Article
Endocrine, ISSN 1355-008X, 5/2015, Volume 49, Issue 1, pp. 139 - 147
Journal Article
Journal Article
Anales de Pediatria, ISSN 1695-4033, 06/2017, Volume 86, Issue 6, pp. 329 - 336
Background Training in autistic spectrum disorders is crucial in order to achieve an early diagnosis. However, the number of papers describing this training is... 
Child psychiatry | Autistic disorder | Health surveys | Knowledge | Paediatrics | Therapeutics
Journal Article
ANALES DE PEDIATRIA, ISSN 1695-4033, 06/2017, Volume 86, Issue 6, pp. 329 - 336
Background: Training in autistic spectrum disorders is crucial in order to achieve an early diagnosis. However, the number of papers describing this training... 
Child psychiatry | PHYSICIAN | Autistic disorder | Therapeutics | ADULTS | PEDIATRICS | Knowledge | Health surveys | Paediatrics | CARE | Clinical Competence | Medical Staff, Hospital | Humans | Middle Aged | Autism Spectrum Disorder | Male | Health Knowledge, Attitudes, Practice | Spain | Young Adult | Hospitals | Adult | Female | Pediatrics - education | Child
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