Glycogen Storage Disease
Mostrando 1-12 de 61 artigos, teses e dissertações.
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1. PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1
RESUMO Objetivo: Discutir aspectos de pré e pós-operatório de cirurgia otorrinolaringológica em pacientes com glicogenose tipo 1b. Descrição do caso: Descrição de três casos clínicos com provável glicogenose tipo 1b, que se submeteram à cirurgia otorrinolaringológica, mostrando a importância da interação multidisciplinar para evitar os epi
Rev. paul. pediatr.. Publicado em: 04/07/2019
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2. Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil
Abstract In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil. Consanguinity was confirmed by 56 (28%) couples, with similar values among groups of intermediar
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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3. Dietary Management of the Ketogenic Glycogen Storage Diseases
Abstract The glycogen storage diseases (GSDs) comprise a group of rare inherited disorders of glycogen metabolism. The hepatic glycogenolytic forms of these disorders are typically associated with hypoglycemia and hepatomegaly. For GSD I, secondary metabolic disturbances include fasting hyperlactatemia, hyperuricemia, and hyperlipidemia. Glycogen storage dis
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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4. Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a: Perioperative Glucose and Lactate Homeostasis
Abstract Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes severe fasting intolerance and lactic acidosis due to the deficiency of glucose-6-phosphatase enzyme. Blood glucose and lactate concentrations from 2 patients with GSD 1a were retrospectively compared to a control group of patients with familial amyloid polyneu
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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5. Microbial Profile of Supragingival and Subgingival Plaque of Patients With Glycogen Storage Disease
Abstract Patients with glycogen storage disease (GSD) are either orally fed (ORF) or gastronomy-tube fed (GTF) with cornstarch to maintain normal glucose levels. It is not known whether the use of cornstarch affects the microbiological oral profile of patients with GSD. Thus, the purpose of this study was to compare supragingival and subgingival plaque sampl
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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6. Structured Dietary Management Dramatically Improves Marked Transaminitis, Metabolic and Clinical Profiles in Glycogen Storage Disease Type IXa
Abstract Glycogen storage disease type IXa (GSD IXa) presents in childhood with hepatomegaly, poor growth, and ketotic hypoglycemia. Clinical course is usually mild, often not requiring treatment with attenuation of symptoms with increasing age. The phenotypic spectrum has recently expanded to include more severe involvement with hepatic fibrosis or cirrhosi
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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7. Mechanisms by Which Metabolic Reprogramming in GSD1 Liver Generates a Favorable Tumorigenic Environment
Abstract Glycogen storage disease type 1 (GSD1) is an inherited disorder caused by impaired glucose 6-phosphatase activity. This impairment translates into the inhibition of endogenous glucose production and the subsequent accumulation of cellular glucose 6-phosphate. Excess glucose 6-phosphate enhances glycolysis, increases the production of fatty acids, ur
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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8. Late Diagnosis of Fanconi-Bickel Syndrome: Challenges With the Diagnosis and Literature Review
Abstract Fanconi-Bickel syndrome (FBS), also known as glycogen storage disease type XI (GSD XI), is a rare autosomal recessive disorder of carbohydrate metabolism. It is caused by mutations in the gene SLC2A2, which encodes for the facilitative glucose transporter GLUT2. Diagnosis of FBS is often delayed since the clinical features and laboratory markers oft
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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9. Hepatic Glycogen Storage Diseases Toward One Global Collaborative Network
Abstract The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This report highlights dilemmas in dietary management, differences in monitoring strategies, and chal
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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10. Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I
Abstract Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the inci
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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11. The Occurrence of Primary Hepatic Adenoma in Deceased Donor Renal Transplant Recipient
Main findings: We reported a case of new-onset, multi-focal hepatic adenoma in an 18 year-old man with no classic risk factors occurring forty months after a renal transplant from a cadaver donor. Histopathology of the adenoma was examined and genotype and phenotype were also analyzed. Histopathologic examination of the adenoma showed no malignancy. Genotyp
Int. braz j urol.. Publicado em: 2014-01
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12. Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib
Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate tran
Genet. Mol. Biol.. Publicado em: 2013