Results 31 to 40 of about 8,846 (292)

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
core   +1 more source

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

Liver transplantation for type I and type IV glycogen storage disease [PDF]

, 1993
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
A. G. Tzakis, AS Guerra, B Illingworth, B. I. Brown, BI Brown, BI Brown, BI Brown, CA Alper, D Raum, DA Merrill, E. Yunis, GA Bannayan, GB Reed, GM Greene, GT Cori, H Zellweger, HG Hers, HL Greene, IT Ferguson, JJ Malatack, JJ Siekierka, KR McMaster, MW Harding, N Kashiwagi, N Kashiwagi, R. S. Kendall, R. Selby, RC Nordlie, S Servidei, S. Todo, T Ishihara, T. E. Starzl, TE Starl, TE Starzl, TE Starzl, TE Starzl, TE Starzl, V Mazzaferro   +37 more
core   +1 more source

GLYCOGENOSIS IN CHILDREN: MODERN ASPECTS (PART I)

Вопросы современной педиатрии, 2012
Glycogenosis is a hereditary carbohydrate metabolism disease, which is caused by mutations in various genes, coding enzymes needed for glycogen synthesis and decay.
A. N. Surkov
doaj   +1 more source

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

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, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium   +28 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

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, Ramiro García, René Tostado, Nagasharmila Dhanakotti   +3 more
doaj   +1 more source

Lesões perinatais em bovinos na intoxicação experimental por Ateleia glazioviana (Leg.Papilionoideae) Perinatal lesions in cattle experimentally poisoned by Ateleia glazioviana (Leg. Papilionoideae)

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, Ana Lucia Schild, Severo Sales de Barros, Franklin Riet-Correa, Fabiana Elias, Adriano T. Ramos   +5 more
doaj   +1 more source

Interstitial lung disease in infancy and early childhood: Clinical approach. [PDF]

Pediatr Pulmonol
Pediatric Pulmonology, Volume 60, Issue S1, Page S24-S26, March 2025.
Bush A.
europepmc   +2 more sources

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora [PDF]

, 2007
5 páginas, 2 figuras -- PAGS nros. 1369-1373Background: Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes.
Berciano, Javier, Gutiérrez, Manuel Carolina, Gutiérrez-Delicado, Eva, Gómez-Abad, Cristina, Gómez-Garre, Pilar, Larrauri, Javier, Morales-Corraliza, José, Rodríguez de Córdoba, Santiago, Serratosa, José María, Villanueva, Vicente E.   +9 more
core   +2 more sources