Results 41 to 50 of about 4,281 (208)
Hepatic glycogenosis: Reversible hepatomegaly in type 1 diabetes
, 2000 Objective: To describe the aetiology, clinical features and appropriate treatment for hepatic glycogenosis in poorly controlled type 1 diabetes. Methods: A review of three adolescents with poor diabetes control, hepatomegaly and elevated serum liver ...
McCrossin, R. B. +3 more
core +1 more source
Трансплантология (Москва), 2018 The paper describes two clinical examples of successful related liver fragment transplantation for type 1 glycogenosis in a one-year-old boy and a 6-year-old girl.
A. V. Filin +14 more
doaj +1 more source
Journal of Renal and Hepatic DisordersBackground: Glycogenic hepatopathy (GH) is a rare complication of uncontrolled type 1 diabetes mellitus (T1DM) in children and was originally described as Mauriac syndrome.
Monica Chandrasekar +1 more
doaj +1 more source
Acta Physiologica, Volume 241, Issue 12, December 2025.ABSTRACT Aim Blood lactate concentration ([La−]), usually measured in mmol/L, is one of the most frequently measured parameters during clinical exercise tests as well as during performance assessments of athletes. Therefore, the purpose of this review is to examine the methodological and biological factors that influence [La−] in order to improve the ...
José Antonio Benítez‐Muñoz +1 more
wiley +1 more source
Pulmonary interstitial glycogenosis in identical twins
, 2005 We present the clinical, radiological, and pathological findings of open lung biopsies from monozygotic prematurely born male twins with respiratory distress at ages 6 and 8 weeks postnatally Radiological examination showed a reticular nodular ...
Onland, W. +6 more
core +1 more source
Frontiers in Aging Neuroscience, 2014 We analyzed the effects of a 4-month resistance (weight lifting) training program followed by a 2-month detraining period in 7 adult McArdle patients (5 female) on: muscle mass (assessed by DXA), strength, serum creatine kinase (CK) activity and clinical
Alfredo eSantalla +7 more
doaj +1 more source
A CASE OF “DEBRANCHER” GLYCOGENOSIS
Nihon Naika Gakkai Zasshi, 1971 糖原病第III型は“debrancher” enzymeの先天的欠損により,肝,骨格筋などに側鎖の短い異常グリコーゲンが蓄積する疾患であり,von Gierke病,Hers病などと共に,hepatomegalic typeの糖原病に属している.従来本邦では,hepatomegalic typeの糖原病のほとんどが,“von Gierke病”として取り扱われてきた感があるが,これらの疾患は,予後および治療の上でかなりの相違があり,ことに本疾患とvon Gierke病とを鑑別することは,臨床的に非常に重要であることを強調したい.本疾患の飢餓時の代謝はきわめて興味があり,本症例では空腹時に血糖が低下して,血中のNEFAおよびグリセロールが著しく上昇した.また本疾患の骨格筋組織の変化については,従来 ...
H, Ikeda, T, Murase, K, Nakao
openaire +3 more sources
Clinical Case Reports, Volume 13, Issue 11, November 2025.ABSTRACT Glycogenic hepatopathy (GH) is a rare yet important complication of poorly controlled diabetes mellitus (DM), especially type 1 diabetes mellitus (T1DM). It presents with hepatomegaly, abdominal pain and elevated liver enzymes. Here, we present a case of GH in a 14‐year‐old girl with poorly controlled T1DM.
Fariba Haghverdilou +8 more
wiley +1 more source
Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. [PDF]
PLoS Genetics, 2009 Mutations in the gene for muscle phosphofructo-1-kinase (PFKM), a key regulatory enzyme of glycolysis, cause Type VII glycogen storage disease (GSDVII).
Miguel García +9 more
doaj +1 more source
GLUCOGENOSIS AS A CAUSE OF INTRAHEPATIC CHOLESTASIS
Annals of Hepatology, 2022 Introduction and Objectives: Hepatic glycogen storage pathologies are very rare diseases among inborn errors of metabolism caused by the alteration of the enzymes involved in the metabolism of glycogen.
K.Y. Santoyo López +1 more
doaj +1 more source