GM1 gangliosidosis is a lysosomal storage disorder due to deficiency of the β-galactosidase
enzyme. This deficiency results in accumulation of GM1 gangliosides and related …

Fabry disease, an X-linked disorder of glycosphingolipids that is caused by the deficiency of
α-galactosidase A, is associated with dysfunction of many cell types and includes a systemic …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the
GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and …

Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe
deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis …

Background The potential association of dermal melanocytosis with lysosomal storage
disease in infancy is an uncommonly known and poorly understood entity. Observations We …

Skin changes related to malabsorption, deficiency of the vitamins A, B, C and D are
described. Deficiency of vitamin C (scurvy) and of niacin (pellagra) are described in detail …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Fabry disease (FD) is a rare lysosomal disorder caused by α-galactosidase A deficiency,
and it leads to the systemic deposition of globotriasylceramide. Demonstrations of the …

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