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Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 44 - 56
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in... 
Brown-Vialetto-Van Laere syndrome | RFVT2 | riboflavin therapy | childhood neuronopathy | SLC52A2 | VIALETTO-VAN-LAERE | PONTOBULBAR PALSY | VANLAERE SYNDROME | AUTOSOMAL RECESSIVE INHERITANCE | FAZIO-LONDE-DISEASE | PROGRESSIVE BULBAR PARALYSIS | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | OVERLAP | DEAFNESS | BRAIN | Ataxia | Original
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2016, Volume 8, Issue C, pp. 67 - 73
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease. Affected individuals have disease ranging from attenuated to severe with... 
Treatment | MPS I | Diagnosis | Education | HURLER-SYNDROME | HEMATOPOIETIC-CELL TRANSPLANTATION | GUIDELINES | IMPLEMENTATION | SCHEIE-SYNDROME | NATURAL-HISTORY | GENETICS & HEREDITY | ENZYME REPLACEMENT THERAPY | REGISTRY
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S72 - S72
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 11/2017, Volume 102, Issue 11, pp. 1019 - 1029
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 05/2017, Volume 40, Issue 3, pp. 357 - 368
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S32 - S32
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S32 - S33
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2015, Volume 38, Issue 3, pp. 417 - 426
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S26 - S26
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S28 - S28
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S27 - S28
Journal Article
Archives of disease in childhood - Education & practice edition, ISSN 1743-0585, 04/2012, Volume 97, Issue 2, pp. 72 - 77
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S32 - S32
Journal Article