Results 11 to 20 of about 4,281 (208)

CHARACTERISTICS OF THE HEPATIC MORPHOLOGICAL CHANGES IN CHILDREN WITH GLYCOGENOSIS

Вопросы современной педиатрии, 2013
Aim: to determine characteristics of the hepatic morphology in children with I, III and VI types of glycogenosis. Patients and methods: 50 children with glycogenosis (6 with type I, 18 with type III and 26 with type VI) aged from 1 to 17 (6,5±0,6) years ...
A. N. Surkov, A. S. Potapov, A. L. Lozovator, E. L. Tumanova   +3 more
doaj   +2 more sources

CARBOHYDRATE METABOLISM DISORDERS IN CHILDREN: HYPOGLICEMIA, HYPERGLICEMIA, GLYCOGENOSIS, AGLYCOGENOSIS, HEXOSEMIA

Вопросы современной педиатрии, 2017
The lecture describes types, causes, pathogenesis key components, manifestations of typical forms of carbohydrate metabolism pathology: hypoglycemia, hyperglycemia, glycogenosis, aglycogenosis, hexosemia.
Peter F. Litvitsky, Larisa D. Maltseva
doaj   +2 more sources

Pulmonary interstitial glycogenosis: an independent disease or morphological manifestation of the spectrum of interstitial lung diseases in infants?

Zdorovʹe Rebenka, 2018
The article presents a modern view on the problem of pulmonary interstitial glycogenosis, describes a typical clinical and morphological picture of the disease, and considers the disease etiology and the possibility of pulmonary interstitial glycogenosis
O.L. Logvinova, M.A. Gonchar
doaj   +2 more sources

Skin Biopsy in Glycogenosis Type III

Pediatric Neurology Briefs, 1990
Electron microscopy of skin specimens of five patients with glycogenosis type III were correlated with clinical, biochemical, and electrophysiological findings from the Divisions of Neuropathology and Neuropediatrics, Ciudad Sanitaria Valle de Hebron ...
J Gordon Millichap
doaj   +2 more sources

Type I glycogenosis with renal tubular dysfunction (presentation of two cases)

The Turkish Journal of Pediatrics, 1993
Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch.
A Yüce, T Coşkun, N Koçak, S Ozsoylu, I Ozalp, S Göğüş   +5 more
doaj   +3 more sources

The Value of Lung Biopsy in Infants up to 3 Months With Diffuse Lung Disease in a Resource-Limited Setting. [PDF]

Can Respir J
Introduction Neonatal lung biopsy guides management of unusually severe, diffuse lung disease with an uncertain diagnosis. Childhood interstitial lung disease (chILD) constitutes a diverse group of uncommon respiratory diseases which are associated with major morbidity and mortality.
Goussard P, Schubert P, van Wyk L, Booysen L, Gie A, Urban M, Janson J, Andronikou S, Eber E.   +8 more
europepmc   +2 more sources

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III. [PDF]

Physiol Rep
Abstract People with glycogen storage disease type III (GSDIII‐p) have a remarkably reduced exercise tolerance. Aim of this study was to analyze the oxygen transport‐utilization chain strategies adopted by GSDIII‐p during exercise. Nine GSDIII‐p (39.4 ± 10.0 year, 33% female) and 11 healthy controls (CTRL), age and gender matched, underwent an ...
Lanfranconi F, Peli L, Pollastri L, Ferri A, Tremolizzo L, Conti E, Pieruzzi F, Miserocchi G, Beretta E, Marzorati M, Zardo W, Gasperini S, Pretese R, Paci S, Capelli C, Mariani R, Cattoni A, Balduzzi AC, Parini R.   +18 more
europepmc   +2 more sources

Glycogenic Hepatopathy: A Case Report of a Rare Complication in Uncontrolled Diabetes. [PDF]

Clin Case Rep
ABSTRACT Glycogenic hepatopathy (GH) is an underrecognized yet reversible cause of hepatomegaly and transaminase elevation in adolescents with poorly controlled type 1 diabetes mellitus (T1DM). While liver biopsy is often utilized to exclude other hepatic pathologies, it can also aid in confirming GH when noninvasive findings are inconclusive.
Musleh M, AlMokbel A.
europepmc   +2 more sources

Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study. [PDF]

J Nurs Manag
Aim To explore the lived experiences and perceptions of patients with rare diseases (RD) in relation to the disease process and its management by the healthcare system. Background Although each RD individually affects fewer than 0.05% of the population, collectively RD affect between 3.5% and 5.9% of the global population, representing approximately ...
Soriano-Martin P, Ruiz-González C, Alias-Castillo AJ, Roman P, Martinez-Ortigosa A, Bertini-Pérez D, Font Jímenez I.   +6 more
europepmc   +2 more sources

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Педиатрическая фармакология, 2020
Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in
Alexander A. Baranov, Leyla S. Namazova-Baranova, Andrey N. Surkov, Olga S. Gundobina, Elena A. Vishneva, Tea V. Margieva, Nato D. Vashakmadze, Liliya R. Selimzyanova   +7 more
doaj   +1 more source