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Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2017, Volume 40, Issue 5, pp. 753 - 754
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0056-0 (6)... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Medicine, Experimental | Medical research | Medical colleges | Children | Analysis | Diseases | Atrophy | Cerebellum | Phosphomannomutase
Journal Article
Revista de Neurologia, ISSN 0210-0010, 2016, Volume 62, Issue 8, pp. 382 - 383
Journal Article
Anales de Pediatria, ISSN 1695-4033, 08/2017, Volume 87, Issue 2, pp. 73 - 77
Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder with various clinical manifestations that affect the peripheral and central nervous system,... 
Learning difficulties | Neuropsychological performance | WISC-IV | Neurofibromatosis type 1 | Cognitive deficit | Intelligence quotient
Journal Article
Neuropediatrics, 12/2018, Volume 49, Issue 6, p. 408
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS).... 
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2019, Volume 85, Issue 5, pp. 740 - 751
Journal Article
ANALES DE PEDIATRIA, ISSN 1695-4033, 08/2017, Volume 87, Issue 2, pp. 73 - 77
Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder with various clinical manifestations that affect the peripheral and central nervous system,... 
Learning difficulties | COGNITIVE PROFILE | Neuropsychological performance | SKILLS | WISC-IV | PEDIATRICS | Neurofibromatosis type 1 | DEFICIT-HYPERACTIVITY DISORDER | Cognitive deficit | DISABILITIES | Intelligence quotient | CHILDREN | Neuropsychological Tests | Humans | Female | Male | Neurofibromatosis 1 - diagnosis | Neurofibromatosis 1 - physiopathology | Child
Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2018, Volume 49, Issue 6, pp. 408 - 413
Abstract Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale... 
Short Communication | cerebellar syndrome | magnetic resonance imaging | PMM2-CDG | PHOSPHOMANNOMUTASE DEFICIENCY PMM2-CDG | ATROPHY | ATAXIA RATING-SCALE | DISORDERS | PEDIATRICS | CLINICAL NEUROLOGY | congenital disorders of glycosylation | dysarthria
Journal Article
Revista de Neurologia, ISSN 0210-0010, 12/2007, Volume 45, Issue 12, pp. 764 - 765
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 10/2011, Volume 34, Issue 5, pp. 1083 - 1093
Journal Article
Revista de Neurologia, ISSN 0210-0010, 06/2008, Volume 46, Issue 12, pp. 766 - 767
Journal Article
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