Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia
Source: American Journal of Medical Genetics, Part A
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities
Source: Journal of Inherited Metabolic Disease
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
Source: Journal of Inherited Metabolic Disease
The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry
Source: Annals of Laboratory Medicine
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG)
Source: Journal of Inherited Metabolic Disease
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