Associated Papers
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Makhamreh MM et al.
Orphanet Journal of Rare Diseases, 2025
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.
Rochette J et al.
Human Genetics, 2010
Tumour necrosis factor alpha and its promoter polymorphisms' role in the phenotypic expression of hemochromatosis.
Distante S et al.
Scandinavian Journal of Gastroenterology, 2003
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Aula N et al.
American Journal of Human Genetics, 2000
[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].
Eto Y
Ryoikibetsu Shokogun Shirizu, 1998
[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
Yano T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995
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