Results 1 to 10 of about 113 (86)
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 +6 more
doaj +3 more sources
Cardiac arrest as a manifestation of unknown Type V glycogenosis: a case report. [PDF]
ESC Heart Fail, 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.
Soria-Navarro R +5 more
europepmc +2 more sources
Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance. [PDF]
J Inherit Metab Dis, 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,
Peeks F +17 more
europepmc +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 +1 more
doaj +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 +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 +3 more
doaj +2 more sources
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
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 +3 more
exaly +2 more sources
Revista Ecuatoriana De Medicina EUGENIO ESPEJO, 2019 Antecedentes: La glucogenosis (GSD) hepática es una enfermedad hereditaria autosómica recesiva caracterizada por la alteración del depósito de glucógeno en los tejidos. La enfermedad se presenta con hepatomegalia, debilidad muscular y retraso del crecimiento.
Kevin Miranda
exaly +2 more sources
Glucogenosis tipo I: reporte de dos casos en dos hermanos de Cartagena de Indias-Colombia
Revista Ciencias Biomédicas, 2011 CASO CLÍNICO: # 1. Producto del primer embarazo de padres no consanguíneos, con lactancia hasta los dos años. A los 18 meses deedad presentó distensión abdominal, hepatomegalia difusa no dolorosa, diarrea de mes y medio, debilidad generalizada ...
Alvear-Sedán Ciro +2 more
doaj +1 more source