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Quoted phrase not found in phrase index: "Glycogen storage disease IIIb"
Page 1
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. ...Glycogen storage disease type III manifests a wide clinical spectrum. ...
PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily t …
Molecular characterization of glycogen storage disease type III.
Shen JJ, Chen YT. Shen JJ, et al. Curr Mol Med. 2002 Mar;2(2):167-75. doi: 10.2174/1566524024605752. Curr Mol Med. 2002. PMID: 11949933 Review.
Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease affecting glycogen metabolism. ...In turn, the resulting information has greatly facilitated our …
Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage disease type III (GSD-III), an …
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
Shen J, Liu HM, McConkie-Rosell A, Chen YT. Shen J, et al. Prenat Diagn. 1998 Jan;18(1):61-4. doi: 10.1002/(sici)1097-0223(199801)18:1<61::aid-pd223>3.0.co;2-i. Prenat Diagn. 1998. PMID: 9483641
Deficiency of glycogen debranching enzyme gene (AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease. ...A newborn in the second family was postnatally diagnosed with the disease....
Deficiency of glycogen debranching enzyme gene (AGL) causes glycogen storage disease type III (GSD-III), an auto …
DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.
Lam CW, Lee AT, Lam YY, Wong TW, Mak TW, Fung WC, Chan KC, Ho CS, Tong SF. Lam CW, et al. Mol Genet Metab. 2004 Nov;83(3):271-5. doi: 10.1016/j.ymgme.2004.07.017. Mol Genet Metab. 2004. PMID: 15542399
Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen debranching enzyme (AGL). Here, we investigate two unrelated Hong Kong Chinese GSD III patients and identify a novel 5-base …
Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of …
The electrodiagnostic characteristics of Glycogen Storage Disease Type III.
Hobson-Webb LD, Austin SL, Bali DS, Kishnani PS. Hobson-Webb LD, et al. Genet Med. 2010 Jul;12(7):440-5. doi: 10.1097/GIM.0b013e3181cd735b. Genet Med. 2010. PMID: 20071996 Free article.
Three of these cases are presented in detail. Nine patients had Glycogen Storage Disease Type IIIa, two patients had Glycogen Storage Disease Type IIIb, and the clinical subtype of one patient was unknown. ...CONCLUSIONS: The neuro …
Three of these cases are presented in detail. Nine patients had Glycogen Storage Disease Type IIIa, two patients had …
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS. Goldstein JL, et al. Genet Med. 2010 Jul;12(7):424-30. doi: 10.1097/GIM.0b013e3181d94eaa. Genet Med. 2010. PMID: 20648714 Free article.
PURPOSE: Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes disease) is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme in liver and muscle (Glycogen …
PURPOSE: Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes disease) is an autosomal recessive …
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT. Shaiu WL, et al. Mol Genet Metab. 2000 Jan;69(1):16-23. doi: 10.1006/mgme.1999.2953. Mol Genet Metab. 2000. PMID: 10655153
Deficiency of glycogen debranching enzyme (AGL) activity causes glycogen storage disease type III (GSD-III). Generalized loss of AGL activity results in GSD-IIIa, and muscle-specific retention of AGL activity results in GSD-IIIb. To date, no com …
Deficiency of glycogen debranching enzyme (AGL) activity causes glycogen storage disease type III (GSD-III). Gen …
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.
Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT. Ding JH, et al. J Pediatr. 1990 Jan;116(1):95-100. doi: 10.1016/s0022-3476(05)81652-x. J Pediatr. 1990. PMID: 2295969
In each of these tissues the debranching enzyme band was 160 kd. To determine the molecular basis for glycogen storage disease type III at the protein level, tissues from 41 patients with glycogen storage disease type III were also subjec …
In each of these tissues the debranching enzyme band was 160 kd. To determine the molecular basis for glycogen storage dise …
Epilepsy and electrophysiological findings in polish twins with glycogenosis type IIIb.
Kroczka S, Biedroń A, Kaciński M. Kroczka S, et al. Clin EEG Neurosci. 2014 Jul;45(3):201-4. doi: 10.1177/1550059413500276. Clin EEG Neurosci. 2014. PMID: 24357677
Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestation of the diseases involves muscle weakne …
Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because …
Phenylketonuria and glycogen storage disease type III in sibs of one family.
Yilmazer T, van Gennip AH, Abeling NG, Ozalp I, Coşkun T, Bakker HD. Yilmazer T, et al. Turk J Pediatr. 2002 Jan-Mar;44(1):49-53. Turk J Pediatr. 2002. PMID: 11859869
Phenylalanine hydroxylase deficiency is the most common form of inherited hyperphenylalaninemia disorders, with a prevalence between 1/4,000-1/40,000. Glycogen storage disease (GSD) type III is caused by debranching enzyme deficiency of glycogen degrad …
Phenylalanine hydroxylase deficiency is the most common form of inherited hyperphenylalaninemia disorders, with a prevalence between 1/4,000 …
13 results