Results 31 to 40 of about 4,281 (208)

Ketosis in Hepatic Glycogenosis [PDF]

Archives of Disease in Childhood, 1972
The occurrence of ketosis in 41 patients with liver glycogenosis and a control group of 22 children was investigated. Fasting ketosis was present in children with a deficiency of the debranching enzyme system and in young children with a deficiency of the phosphorylase system, but never in patients with a glucose-6-phosphatase deficiency.
J, Fernandes, N A, Pikaar
openaire   +2 more sources

Pompe disease, a late-onset – misleading form of diagnosis in a patient with persistent hepatic cytolysis syndrome [PDF]

Romanian Journal of Pediatrics, 2020
The article discusses a clinical case of late-onset Pompe disease in a 15-year and 6-month-old adolescent hospitalised in a Paediatric Gastroenterology department to investigate persistent liver cytolysis, without response to hepatoprotective therapy ...
Smaranda Diaconescu, Cristina Rusu, Laura Bozomitu, Alina Costina Luca, Ecaterina Vlad, Oana-Larisa Ciobanu-Matei, Ramona Babici, Silvia Strat, Lorenza Donea   +8 more
doaj   +1 more source

Liver transplantation in glycogen storage disease type III: A case-series. [PDF]

JIMD Rep
Abstract Glycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo‐1,6‐glucosidase. This condition presents with severe hepatic symptoms in childhood, mostly hepatomegaly, hypoglycemia in half of patients, while muscular complications may predominate in adulthood.
Gay S, Bigot A, d'Alteroche L, Dujardin F, Fromont-Hankard G, Tressel N, Salame E, Maillot F.   +7 more
europepmc   +2 more sources

Oral Manifestations in Patients with Glycogen Storage Disease: A Systematic Review of the Literature

Applied Sciences, 2020
(1) Background: Glycogen storage disease (GSD) represents a group of twenty-three types of metabolic disorders which damage the capacity of body to store glucose classified basing on the enzyme deficiency involved.
Antonio Romano, Diana Russo, Maria Contaldo, Dorina Lauritano, Fedora della Vella, Rosario Serpico, Alberta Lucchese, Dario Di Stasio   +7 more
doaj   +1 more source

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis [PDF]

, 2008
Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage with exertion.
Akman, Hasan O., Wade, Claire, Valberg, Stephanie J., McCue, Molly E., Miller, Michael B., DiMauro, Salvatore, Mickelson, James R.   +6 more
core   +1 more source

Real‐Life Effectiveness After Switching to Avalglucosidase Alfa in Late‐Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study

European Journal of Neurology, Volume 33, Issue 7, July 2026.
Illustrating motor function changes before the switch, during the first year, and during the second year after switching treatment. ABSTRACT Late‐onset Pompe disease (LOPD) is a progressive myopathy. Enzyme replacement therapy is effective, but long‐term outcomes vary.
Céline Tard, Sabrina Sacconi, Nadjib Taouagh, Françoise Bouhour, Maud Michaud, Stephane Beltran, Maxime Fournier, Florence Demurger, Emmeline Lagrange, Sylvain Nollet, Jean‐Baptiste Noury, Armelle Magot, Pascal Cintas, Dimitri Renard, Joëlle Deibener‐Kaminsky, Claire Lefeuvre, Jean‐Baptiste Davion, Emmanuelle Salort‐Campana, Azzeddine Arrassi, Marco Spinazzi, Dalil Hamroun, Diana Chitimus, Pompe Study Group, D. Orlikowski, M. Masingue, T. Stojkovic, A. Béhin, F. Lallement, L. Kouton, A. Verschueren, Al. Kaminsky, G. Sole, F. Duval, F. Bouibede, M. C. Minot, Y. Pereon, B. Acket, A. Nadaj‐Pakleza, R. J. Morales, F. Esselin, R. Jaussaud, K. Ghorab, L. Magy, E. Krim, C. Dahan, F. Taithe, A. L. Bedat‐Millet, S. Toquet, E. Diab, M. Maillet‐Vioud, J. Y. Hogrel, A. Echaniz‐Laguna, R. Thomas, G. Nicolas, Shahram Attarian, Pascal Laforêt   +55 more
wiley   +1 more source

Genotyping Brahman cattle for generalised glycogenosis

, 2002
Objective: To develop procedures for genotyping Brahman cattle for loss-of-function alleles within the acidic α -glucosidase gene and to assess the risk of generalised glycogenosis in Australian Brahman cattle.
KG REICHMANN, JA DENNIS, Dennis, J.A., Reichmann, K.G., PJ HEALY, Healy, P.J.   +5 more
core   +1 more source

Respiratory distress in a 2-month-old infant: Is the primary cause cardiac, pulmonary or both?

Respiratory Medicine Case Reports, 2018
A 2-month-old female with worsening cough, respiratory distress and an abnormal chest X-ray was referred to our institution for further evaluation of suspected scimitar syndrome.
Nadir Demirel, Roberto Ochoa, Megan K. Dishop, Tara Holm, William Gershan, Gail Brottman   +5 more
doaj   +1 more source

Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant

Pulmonary Circulation, 2022
We present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of the newborn.
Stephanie M. Tsoi, Kirk Jones, Elizabeth Colglazier, Claire Parker, Hythem Nawaytou, David Teitel, Jeffrey R. Fineman, Roberta L. Keller   +7 more
doaj   +1 more source

Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus

European Journal of Case Reports in Internal Medicine, 2018
Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly.
Maria João Rodrigues Ferreira Pinto, Nuno Melo, Luís Flores, Francisco Cunha   +3 more
doaj   +1 more source