Literature DB >> 6572629

Type III glycogenosis presenting as liver disease in adults with atypical histological features.

I W Fellows, J S Lowe, A L Ogilvie, A Stevens, P J Toghill, M Atkinson.   

Abstract

Two cases of type III glycogen storage disease are reported in adults; the occurrence of cirrhosis in one case illustrates the potential development of chronic liver disease in this condition. The other was the oldest patient with this condition found in a review of published reports. Electron microscopy of peripheral blood leucocytes to demonstrate excess glycogen was found to be a quick and useful aid to diagnosis. Histology of these adult cases showed a distribution of hepatocyte vacuolation which has not been previously recorded.

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Year:  1983        PMID: 6572629      PMCID: PMC498238          DOI: 10.1136/jcp.36.4.431

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


  7 in total

Review 1.  The glycogenoses and other inherited disorders of carbohydrate metabolism.

Authors:  B Senior; A Sadeghi-Nejad
Journal:  Clin Perinatol       Date:  1976-03       Impact factor: 3.430

2.  Type 3 glycogenosis. A biochemical and electron microscopic study.

Authors:  J C Garancis; R R Panares; T A Good; J F Kuzma
Journal:  Lab Invest       Date:  1970-05       Impact factor: 5.662

3.  Hepatic phosphorylase deficiency. Its differentiation from other hepatic glycogenoses.

Authors:  J Fernandes; J F Koster; W F Grose; N Sorgedrager
Journal:  Arch Dis Child       Date:  1974-03       Impact factor: 3.791

4.  Glycogen storage disease, types I to X: criteria for morphologic diagnosis.

Authors:  A J McAdams; G Hug; K E Bove
Journal:  Hum Pathol       Date:  1974-07       Impact factor: 3.466

5.  Portal diversion for the treatment of glycogen storage disease in humans.

Authors:  T E Starzl; C W Putnam; K A Porter; C G Halgrimson; J Corman; B I Brown; R W Gotlin; D O Rodgerson; H L Greene
Journal:  Ann Surg       Date:  1973-10       Impact factor: 12.969

6.  Glycogen storage disease in Israel. A clinical, biochemical and genetic study.

Authors:  S Levin; S W Moses; R Chayoth; N Jagoda; K Steinitz
Journal:  Isr J Med Sci       Date:  1967 May-Jun

Review 7.  Glycogen storage diseases.

Authors:  G Hug
Journal:  Birth Defects Orig Artic Ser       Date:  1976
  7 in total
  4 in total

1.  Definitive prenatal diagnosis for type III glycogen storage disease.

Authors:  B Z Yang; J H Ding; B I Brown; Y T Chen
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

2.  A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Authors:  Isabelle Rousseau-Nepton; Minoru Okubo; Rosemarie Grabs; John Mitchell; Constantin Polychronakos; Celia Rodd
Journal:  CMAJ       Date:  2015-01-19       Impact factor: 8.262

3.  Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.

Authors:  A I Dagli; R T Zori; H McCune; T Ivsic; M K Maisenbacher; D A Weinstein
Journal:  J Inherit Metab Dis       Date:  2009-03-30       Impact factor: 4.982

4.  Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.

Authors:  R A Coleman; H S Winter; B Wolf; Y T Chen
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

  4 in total

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