GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4
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Metabolic disease
Metabolic pathway
Articles
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glycogen storage disease type 4
25 April 2004 -
Niemann-Pick diseases
16 October 2003Niemann-Pick disease, NPDs
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cobalamin deficiency type C
14 March 2011cobalamin C disease; cobalamin deficiency type cblC with homocystinuria (MMACHC)
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3-hydroxysteroid dehydrogenase deficiency
25 May 20093β-Hydroxysteroid dehydrogenase
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Zellweger disease
17 March 2005Zellweger syndrome
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glycogen storage diseases
28 January 2006glycogenosis, glycogenoses, GSDs
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Smith-Lemli-Opitz syndrome
25 November 2003SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome
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adult polyglucosan body disease
3 January 2006Adult polyglucosan body disease is a late-onset, slowly progressive, autosomal recessive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. THis disease is an allelic disorder to type IV glycogen storage disease with GBE1 mutations (...)
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multiple acyl-CoA dehydrogenation deficiency
18 March 2005MADD, glutaric aciduria type 2
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cblC type of combined methylmalonic aciduria and homocystinuria
2 February 2006cobalamine deficiency type C; cblC type cobalamine deficiency