Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyNeuromuscular forms of glycogen branching enzyme deficiencyPTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora diseaseDeficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistanceA novel mouse model that recapitulates adult-onset glycogenosis type 4Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations.Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.[Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case].Glycogen storage diseases: new perspectives.Progress and problems in muscle glycogenosesA complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.Misexpression screen delineates novel genes controlling Drosophila lifespanUnclassified polysaccharidosis of the heart and skeletal muscle in siblings.Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure.Neuromuscular disorders of glycogen metabolism.Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.The investigation and management of metabolic myopathies.Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.Glycogen storage disease type IV (GBE1)Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.Branching enzyme deficiency: expanding the clinical spectrum.Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.Defective GBE1 does not catalyze branch formation in growing glycogen chains (liver)Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.Q55847306Glycogen storage diseases: Diagnosis, treatment and outcomeCongenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 genePathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysisAnalysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
P2860
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P2860
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@ast
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@en
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@nl
type
label
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@ast
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@en
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@nl
prefLabel
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@ast
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@en
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@nl
P2093
P3181
P1433
P1476
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
@en
P2093
D Cassandrini
E Pasquini
G van Noort
P304
P3181
P356
10.1212/01.WNL.0000138429.11433.0D
P407
P577
2004-09-01T00:00:00Z