Results 1 to 10 of about 112 (85)

Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study [PDF]

JIMD Reports, 2023
In patients with glycogen storage disease type Ib (GSD Ib), quality of life is severely hampered by neutropenia and neutropenia‐associated symptoms. SGLT2 inhibitors are a new treatment option and have shown improved medical outcomes in more than 120 ...
Sarah C. Grünert, Annieke Venema, Jamas LaFreniere, Blair Schneider, Enrique Contreras, Saskia B. Wortmann, Terry G. J. Derks   +6 more
doaj   +3 more sources

Cardiac arrest as a manifestation of unknown Type V glycogenosis: a case report [PDF]

ESC Heart Failure, Volume 9, Issue 5, Page 3625-3629, October 2022., 2022
Abstract Few cases have been reported to date, in which a massive rhabdomyolysis causes a cardiac arrest in a male adult suffering from undiagnosed McArdle disease. Veno‐arterial extracorporeal membrane oxygenation and cytokine adsorption filter (CytoSorb®) were required to reach a complete and successful recovery.
Raquel Soria‐Navarro, Virginia Burgos Palacios, Cristina Castrillo Bustamante, Elena Gallardo Agromayor, Sara Marcos González, Domingo González‐Lamuño Leguina   +5 more
wiley   +2 more sources

GLUCOGENOSIS AS A CAUSE OF INTRAHEPATIC CHOLESTASIS

Annals of Hepatology, 2022
Introduction and Objectives: Hepatic glycogen storage pathologies are very rare diseases among inborn errors of metabolism caused by the alteration of the enzymes involved in the metabolism of glycogen.
K.Y. Santoyo López, A Domínguez García   +1 more
doaj   +2 more sources

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance [PDF]

Journal of Inherited Metabolic Disease, Volume 43, Issue 2, Page 279-289, March 2020., 2020
Abstract The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area. The multiphase methodology followed the principles of the James Lind Alliance (JLA) guidebook. An international scoping survey in seven languages was distributed to patients, carers,
Fabian Peeks, Willemijn F. Boonstra, Lut de Baere, Camilla Carøe, Thomas Casswall, Damián Cohen, Katherine Cowan, Iris Ferrecchia, Alberto Ferriani, Caroline Gimbert, Marcus Landgren, Nerea L. Maldonado, Jason McMillan, Antal Nemeth, Niccolò Seidita, Ute Stachelhaus‐Theimer, David A. Weinstein, Terry G. J. Derks   +17 more
wiley   +2 more sources

A new variant in PHKA2 is associated with glycogen storage disease type IXa [PDF]

Molecular Genetics and Metabolism Reports, 2017
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa.
Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa   +9 more
doaj   +2 more sources

Hipoglicemia, hepatomegalia y déficit pondoestatural: expresión clínica de glucogenosis

Revista GICOS, 2023
Las glucogenosis son un conjunto de errores innatos del metabolismo del glucógeno secundario a mutaciones que alteran enzimas que intervienen en su síntesis o degradación, lo que ocasiona su depósito principalmente en hígado y músculo.
Gloria Da Silva de Arenas, Nolis Camacho-Camargo, Fátima Pino, Rafael Santiago   +3 more
doaj   +2 more sources

Manejo nutricional de la glucogenosis [PDF]

Revista Chilena De Pediatria, 1990
Three cases of glycogenosis are presented. They were recognized by clinical evidence and hepatic biopsy specimens. Dietary treatment with a normocaloric diet and raw corn starch every 6 hours was given. In cases 1 and 2 hepatic size returned to normal and they showed an initial catch up growth without signs of renal disease or other complications. Case
CARLOS Castillo D
exaly   +3 more sources

GLUCOGENOSIS TIPO I Y III

Revista Chilena De Nutricion, 2006
Las glucogenosis son alteraciones del metabolismo del glucogeno, ocasionados por la ausencia o deficiencia de enzimas que participan tanto de su sintesis como en su degradacion. La mayoria estan localizadas en el higado, siendo los signos clinicos caracteristicos la hepatomegalia y la hipoglucemia. El resto se ubica en el tejido muscular. Su frecuencia
Veronica Cornejo E, Cornejo E Veronica, Raimann B Erna   +2 more
exaly   +2 more sources

Hepatomegalia, distensión abdominal e hipoglucemia en un lactante: expresión clínica de la glucogenosis tipo IX

Anales De Pediatría, 2004
Las glucogenosis son entidades poco frecuentes en la practica diaria de un pediatra, pero deben tenerse en cuenta ante todo paciente que se presente con retraso del crecimiento, hepatomegalia, hipoglucemia, alteracion del tono muscular y/o alteraciones en el estudio metabolico.
P Soler Palacin
exaly   +4 more sources

Tratamiento continuo con factores estimulantes de colonias (G-CSF) de la neutropenia asociada a la glucogenosis tipo Ib

Anales De Pediatría, 2001
En los ultimos anos, los factores estimulantes de colonias (CSF) o de crecimiento hemopoyetico han abierto una via para el tratamiento de las neutropenias graves, con alta eficacia clinica y efectos secundarios irrelevantes. Ademas, su uso se ha generalizado gracias a la sintesis mediante tecnicas de recombinacion genetica.
P. de Diego Fernández, J.R. García Fernández, F. Moreno Madrid, M. Sánchez Forte   +3 more
exaly   +2 more sources