Results 61 to 70 of about 3,882 (211)

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

Pediatric Pulmonology 2024 Year in Review: Rare and Diffuse Lung Disease

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT The field of pediatric rare and diffuse lung diseases continues to advance, with ongoing research deepening our understanding of the diagnosis and treatment of conditions such as children's interstitial and diffuse lung disease (chILD), non‐cystic fibrosis (CF) bronchiectasis, and pulmonary complications of childhood cancer.
Pi Chun Cheng, Deborah R. Liptzin, Katiana Garagozlo, Andrew T. Barber   +3 more
wiley   +1 more source

Visual affectation in patients with glycogen storage disease (Glycogenosis) [PDF]

, 2016
In this project we wanted to comprise the visual affectations of a rare/minority disease. Based on the little research there is in this field and the large effect that this may actually have in the visual sistem.
Travé Huarte, Sònia
core   +1 more source

Diffuse Parotid Gland Enlargement Assosiated with Glycogen Storage Disease III: A Case Report

Endocrinology Research and Practice, 2005
The purpose of this study was to explore the patient whose diffuse parotid gland enlargement propable related with glycogen storage disease III(Cori-Forbes Disease).
Ercan Akbay, Hatice Toy, Kayhan Öztürk
doaj   +2 more sources

Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia

American Journal of Perinatology Reports, 2015
Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane ...
Maresa E. C. Jiskoot-Ermers, Tim A. J. Antonius, Monika G. Looijen-Salamon, Marc H. W. A. Wijnen, Bettina F. Loza, Arno F. J. van Heijst   +5 more
doaj   +1 more source

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

Molecular Genetics and Metabolism Reports, 2020
The rs2229611 SNP (G6PC:c.*23T>C) in the 3’UTR region of the G6PC gene affects the stability of the glucose-6-phosphatase mRNA and occurs in a higher frequency in patients with glycogenosis Ia (GSD Ia) in some populations.
Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Juliana Maria Fagundes Verch, Bruna Bento dos Santos, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz   +5 more
doaj   +1 more source

Diagnosis of glycogenosis type 2

, 2008
The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease.
Vianello, A., Gasperini, S., Bembi, B., DANESINO, CESARE, A. VIANELLO, Danesino, C., PARENTI, GIANCARLO, Cerini, E., Parenti, G., Ravaglia, S., Toscano, A., L. MORANDI, S. GASPERINI, M. A. DONATI, Musumeci, O., Morandi, L., A. TOSCANO, C. DANESINO, S. RAVAGLIA, Donati, M. A., B. BEMBI, Seidita, F., G. Parenti, O. MUSUMECI, E. CERINI, F. SEIDITA   +25 more
core   +1 more source

Pompe's disease or type IIa glycogenosis

Arquivos Brasileiros de Cardiologia, 1999
This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the
José Luiz Balthazar Jacob, Rosiene Lisboa Leandro, Adelino Parro Jr   +2 more
doaj   +1 more source

Aerobic capacity and muscle proteome: Insights from a mouse model

Experimental Physiology, Volume 110, Issue 2, Page 293-306, 1 February 2025.
Abstract We explored the association between aerobic capacity (AC) and the skeletal muscle proteome of McArdle (n = 10) and wild‐type (n = 8) mice, as models of intrinsically ‘low’ and ‘normal’ AC, respectively. AC was determined as total distance achieved in treadmill running until exhaustion.
Abel Plaza‐Florido, Alejandro Santos‐Lozano, Susana López‐Ortiz, Beatriz G. Gálvez, Joaquín Arenas, Miguel A. Martín, Pedro L. Valenzuela, Tomàs Pinós, Alejandro Lucia, Carmen Fiuza‐Luces   +9 more
wiley   +1 more source

PRKAG2 ‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
ABSTRACT Nonimmune foetal hydrops is a prenatal condition associated with significant perinatal mortality. It has so far been associated with over 200 chromosomal and monogenic conditions, most frequently chromosomal aneuploidies and RASopathies. Thorough clinical phenotyping and genetic evaluation are essential to determine the underlying etiology of ...
Alexandre M. White‐Brown, Marilyn Richard, Anne‐Maude Morency, Chelsea Maedler‐Kron, Isabelle De Bie   +4 more
wiley   +1 more source