Pages that link to "Q68019029"

The following pages link to Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection (Q68019029):

Displaying 9 items.

• Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype (Q24517908) (← links)
• The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation (Q24538902) (← links)
• An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease (Q28214843) (← links)
• Lysosomal transport disorders (Q33948573) (← links)
• Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS. (Q35214546) (← links)
• The role and potential of sialic acid in human nutrition (Q35567214) (← links)
• Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. (Q35644366) (← links)
• Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease (Q42156656) (← links)
• Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. (Q46710056) (← links)