GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects
N Brunetti-Pierri, F Scaglia - Molecular genetics and metabolism, 2008 - Elsevier
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 …
enzyme. This deficiency results in accumulation of GM1 gangliosides and related …
Fabry disease
R Schiffmann - Pharmacology & therapeutics, 2009 - Elsevier
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 …
α-galactosidase A, is associated with dysfunction of many cell types and includes a systemic …
[图书][B] Atlas of metabolic diseases second edition
W Nyhan, B Barshop, P Ozand - 2005 - books.google.com
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 …
child with a given disorder, it is essential for the clinician to have a comprehensive source of …
Fabry disease
R Schiffmann - Handbook of clinical neurology, 2015 - Elsevier
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 …
GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and …
Fucosidosis revisited: a review of 77 patients
PJ Willems, R Gatti, JK Darby, G Romeo… - American journal of …, 1991 - Wiley Online Library
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 …
deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis …
Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis
M Hanson, JR Lupski, J Hicks, D Metry - Archives of dermatology, 2003 - jamanetwork.com
Background The potential association of dermal melanocytosis with lysosomal storage
disease in infancy is an uncommonly known and poorly understood entity. Observations We …
disease in infancy is an uncommonly known and poorly understood entity. Observations We …
Metabolic and nutritional disorders
RPE Sarkany, SM Breathnach… - Rook's textbook of …, 2010 - Wiley Online Library
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 …
described. Deficiency of vitamin C (scurvy) and of niacin (pellagra) are described in detail …
[图书][B] Atlas of inherited metabolic diseases
WL Nyhan, GF Hoffmann - 2020 - books.google.com
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 …
child with a given disorder, it is essential for the clinician to have a comprehensive source of …
[HTML][HTML] Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family
B San Millán-Tejado, C Navarro… - Journal of Clinical …, 2023 - mdpi.com
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 …
and it leads to the systemic deposition of globotriasylceramide. Demonstrations of the …
[图书][B] Lexikon der Syndrome und Fehlbildungen
R Witkowski, O Prokop, E Ullrich, R Witkowski… - 1999 - Springer
Lexikon der Syndrome und Fehlbildungen | SpringerLink We’re sorry, something doesn't seem
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