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The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 01/2015, Volume 439, pp. 162 - 167
Glycogen storage disease type III (GSD III; MIM # ) is an autosomal recessive inherited disorder characterized by fasting hypoglycemia, growth retardation,... 
Turkey | Mutation | Aberrant splicing | Glycogen storage disease type III | Haplotype | AGL | DEBRANCHING ENZYME GENE | CHINESE | IDENTIFICATION | HETEROGENEITY | AGL GENE | LIVER | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | Young Adult | Humans | Adolescent | Child, Preschool | Adult | Female | Male | Child | Sequence Analysis, DNA | Glycogen Storage Disease Type III - genetics | Glucose metabolism | Glycogen
Journal Article
Journal Article
Neuropediatrics, ISSN 0174-304X, 2014, Volume 45, Issue 6, pp. 346 - 353
Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral... 
Original Article | Leigh syndrome | hydrocephalus | brain malformation | long survival | SURF1 | SURF1 GENE | CLINICAL NEUROLOGY | CYTOCHROME-C-OXIDASE | COX DEFICIENCY | DISEASE | PEDIATRICS | MUTATIONS | EXPRESSION
Journal Article
Journal Article
The New England journal of medicine, 02/2014, Volume 370, Issue 6, p. 533
Journal Article
Neuropediatrics, 12/2014, Volume 45, Issue 6, p. 346
Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral... 
Membrane Proteins - genetics | Pedigree | Humans | Brain - pathology | Female | Leigh Disease - mortality | Mitochondrial Proteins - genetics | Mutation | Leigh Disease - genetics | Child | Leigh Disease - pathology | Siblings
Journal Article
Journal Article
Pediatrics International, ISSN 1328-8067, 02/2010, Volume 52, Issue 1, pp. 145 - 147
Journal Article
Journal Article
Cornea, ISSN 0277-3740, 03/2003, Volume 22, Issue 2, pp. 175 - 177
BACKGROUND.Fabry disease is an X-linked genetic disorder involving sphingolipid catabolism, which is caused by lysosomal alpha-galactosidase A deficiency.... 
Fabry disease | Cornea verticillata | Alpha-galactosidase | alpha-Galactosidase - genetics | DNA Mutational Analysis | Fabry Disease - genetics | Humans | Adult | Female | Heterozygote | Fabry Disease - enzymology | Mutation | Corneal Opacity - genetics | Corneal Opacity - enzymology
Journal Article
Journal Article
Clinical Laboratory, ISSN 1433-6510, 1997, Volume 43, Issue 10, pp. 889 - 891
Journal Article
Journal of Molecular Medicine, ISSN 0946-2716, 8/1998, Volume 76, Issue 10, pp. 715 - 719
Classical galactosemia, characterized clinically by acute hepatic dysfunction, sepsis, cataract, and failure to thrive, is caused by deficiency of... 
Mutations | Galactose-1-phosphate uridyltransferase gene | Duarte-1 and Duarte-2 variants | Clinical phenotype | Galactosemia
Journal Article
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