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Quoted phrase not found in phrase index: "Glycogen storage disease IIIb"
Page 1
Glycogen storage diseases: new perspectives.
Ozen H. Ozen H. World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. World J Gastroenterol. 2007. PMID: 17552001 Free PMC article. Review.
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...There are over 12 types and they are classified based on the enzyme deficiency and the affected tissue. Disorders of glycogen degradation may affect primarily …
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...There are over 12 types an …
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 …
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, Kishnani PS, Wechsler SB. Vertilus SM, et al. Genet Med. 2010 Jul;12(7):413-23. doi: 10.1097/GIM.0b013e3181e0e979. Genet Med. 2010. PMID: 20526204 Free PMC article.
PURPOSE: Glycogen Storage Disease Type III, glycogen debranching enzyme deficiency, causes accumulation of glycogen in liver, skeletal, and cardiac muscle. Some patients develop increased left ventricular thickness by echocardiography, but the r …
PURPOSE: Glycogen Storage Disease Type III, glycogen debranching enzyme deficiency, causes accumulation of gl …
Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group.
Haagsma EB, Smit GP, Niezen-Koning KE, Gouw AS, Meerman L, Slooff MJ. Haagsma EB, et al. Hepatology. 1997 Mar;25(3):537-40. doi: 10.1002/hep.510250307. Hepatology. 1997. PMID: 9049194
Type III glycogen storage disease (GSD) is a disorder of carbohydrate metabolism caused by a deficiency of debranching enzyme. ...We report on an adult patient with GSD who developed endstage cirrhosis and a small hepatocellular carcinoma. She had GSD subtype …
Type III glycogen storage disease (GSD) is a disorder of carbohydrate metabolism caused by a deficiency of debranching …
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 …
Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
Horvath JJ, Austin SL, Jones HN, Drake EJ, Case LE, Soher BJ, Bashir MR, Kishnani PS. Horvath JJ, et al. Mol Genet Metab. 2012 Nov;107(3):496-500. doi: 10.1016/j.ymgme.2012.09.025. Epub 2012 Sep 28. Mol Genet Metab. 2012. PMID: 23062577
Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. ...While further investigation in a larger group of patients wit …
Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen …
Pregnancy and its management in women with GSD type III - a single centre experience.
Ramachandran R, Wedatilake Y, Coats C, Walker F, Elliott P, Lee PJ, Lachmann RH, Murphy E. Ramachandran R, et al. J Inherit Metab Dis. 2012 Mar;35(2):245-51. doi: 10.1007/s10545-011-9384-7. Epub 2011 Sep 7. J Inherit Metab Dis. 2012. PMID: 21947574
Between 1997 and 2010 there were 15 pregnancies in seven women with GSD III. Four women had GSD IIIb (nine pregnancies) and three GSD IIIa (six pregnancies). There was a successful outcome in all 15 pregnancies with delivery of 15 liveborn infants. ...
Between 1997 and 2010 there were 15 pregnancies in seven women with GSD III. Four women had GSD IIIb (nine pregnancies) and three GSD …
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Mundy HR, Williams JE, Lee PJ, Fewtrell MS. Mundy HR, et al. J Inherit Metab Dis. 2008 Jun;31(3):418-23. doi: 10.1007/s10545-008-0830-0. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392743
Glycogen storage disease type III (GSD III; OMIM 232400) is an autosomal recessive deficiency of the glycogen debrancher enzyme, amylo-1,6-glucosidase (EC 3.2.1.33). ...Lower bone mass was found at all sites for GSD IIIa patients (combined liver and mu …
Glycogen storage disease type III (GSD III; OMIM 232400) is an autosomal recessive deficiency of the glycogen de …
Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
Ikeda K, Goebel HH, Burck U, Kohlschütter A. Ikeda K, et al. Eur J Pediatr. 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150. Eur J Pediatr. 1982. PMID: 6284508
Based on our own observations on the ultrastructure of lymphocytes in lysosomal disorders, our results may be divided into the following 3 groups: 1. pathological findings with specific inclusions: each type of NCL, presumed mucolipidosis type IV, glycogenosis type II; 2 patholog …
Based on our own observations on the ultrastructure of lymphocytes in lysosomal disorders, our results may be divided into the following 3 g …