Results 21 to 30 of about 4,281 (208)
Fanconi – Eickel Syndrome – two cases report
Annals of Hepatology, 2008 A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction.
Norberto Sotelo +3 more
doaj +1 more source
Hepatic Glycogenosis in an Adolescent with Diabetes
, 2010 Hepatic glycogenosis in an adolescent with ...
Bua J +4 more
core +2 more sources
Pesquisa Veterinária Brasileira, 2004 Folhas de Ateleia glazioviana Baill., dessecadas em estufa a 100ºC por 16 a 20 horas, foram administradas a sete vacas sem raça definida. Duas vacas receberam 9 g/kg da planta seca aos 4 meses de gestação em dose única.
Maria del Carmen García y Santos +5 more
doaj +1 more source
, 2021 Background/aims: Glycogen synthesis and storage are normal hepatocyte functions. However, glycogenosis, defined as excess hepatocyte glycogen visible by routine H&E light microscopy, has not been well characterized in nonalcoholic fatty liver disease ...
David E Kleiner +25 more
core +1 more source
Orphanet Journal of Rare Diseases, 2023 Background The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and ...
Walaa Karazi +28 more
doaj +1 more source
Hepatomegaly and type 1 diabetes: a clinical case of Mauriac’s syndrome
Italian Journal of Pediatrics, 2019 Background Hepatic glycogenosis is characterized by excessive glycogen accumulation in hepatocytes and represents a complication of poor controlled type 1 diabetes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac’s
Fortunato Lombardo +5 more
doaj +1 more source
Interstitial Lung Disease in Children: “Specific Conditions of Undefined Etiology” Becoming Clearer
Children, 2022 Background: Children’s interstitial lung disease (chILD) is a rare group of pediatric lung diseases affecting the lung interstitium diffusely. In this work, we focused our attention on a specific infant group of chILD, also known as “specific conditions ...
Santiago Presti +5 more
doaj +1 more source
Biochemical investigations in glycogen storage disease
The Turkish Journal of Pediatrics, 1963 Two cases of glycogenosis are reported and the clinical and biochemical aspects of the disease are discussed.
Pınar Özand +3 more
doaj +3 more sources
Therapeutic advances in the management of Pompe disease and other metabolic myopathies
Therapeutic Advances in Neurological Disorders, 2013 The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement therapy (ERT), the first causative treatment for glycogenosis type II (GSDII) or Pompe disease, which has given new impetus to research into that disease
Corrado Angelini +2 more
doaj +1 more source
Skeletal muscle metabolism during prolonged exercise in Pompe disease
Endocrine Connections, 2017 Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown.
Nicolai Preisler +8 more
doaj +1 more source