Results 21 to 30 of about 556,889 (346)

Molecular diagnosis of glycogen storage disease type I: a review. [PDF]

EXCLI J, 2019
EXCLI Journal; 18:Doc30; ISSN 1611 ...
Beyzaei Z, Geramizadeh B.
europepmc   +4 more sources

Glycogen storage disease types I and II: Treatment updates [PDF]

Journal of Inherited Metabolic Disease, 2007
AbstractPrior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long‐term complications of GSD type I (GSD I) have not responded to dietary therapy with ...
Dwight D. Koeberl, Priya S. Kishnani, Yan‐Chu Chen   +2 more
openalex   +4 more sources

Psychosocial Functioning in Youth with Glycogen Storage Disease Type I [PDF]

Journal of Pediatric Psychology, 2008
To assess the quality of life and psychosocial functioning among pediatric patients with Glycogen Storage Disease (GSD) types Ia and Ib.Thirty-one youth with GSD types Ia and Ib and 42 healthy controls participated. Quality of life ratings from the GSD types Ia and Ib sample were compared with a previously reported clinical comparison sample.
Eric A. Storch, Mary L. Keeley, Lisa J. Merlo, Marni L. Jacob, Catherine E. Correia, David A. Weinstein   +5 more
openalex   +5 more sources

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa). [PDF]

J Inherit Metab Dis
Weinstein DA, Derks TG, Rodriguez-Buritica DF, Ahmad A, Couce ML, Mitchell JJ, Riba-Wolman R, Mount M, Sallago JB, Ross KM, van der Klauw MM, de Boer F, van der Schaaf C, Saavedra H, Martínez-Olmos M, Atanga E, Hosseini A, Mitragotri D, Crombez E.   +18 more
europepmc   +2 more sources

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy. [PDF]

Hum Mol Genet, 2022
Monteillet L, Labrune P, Hochuli M, Do Cao J, Tortereau A, Miliano AC, Ardon-Zitoun C, Duchampt A, Silva M, Verzieux V, Mithieux G, Rajas F.   +11 more
europepmc   +3 more sources

Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization. [PDF]

Calcif Tissue Int
Vai S, Falchetti A, Corbetta S, Bianchi ML, Alberio C, Carrara S, Gasperini S, Pretese R, Parisi L, Teti A, Maurizi A.   +10 more
europepmc   +2 more sources

Assessment of auditory functions in patients with hepatic glycogen storage diseases

The Turkish Journal of Pediatrics, 2022
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı, Fatih Ezgü, İlyas Okur, Aslı İnci, Ayşe Kılıç, Ekin Özsaydı, Bülent Gündüz, Hakan Tutar, Nuriye Yıldırım Gökay, Leyla Tümer   +9 more
doaj   +1 more source

Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study. [PDF]

JIMD Rep, 2014
Sechi A, Deroma L, Paci S, Lapolla A, Carubbi F, Burlina A, Rigoldi M, Di Rocco M.   +7 more
europepmc   +3 more sources

ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I

Revista Paulista de Pediatria, 2021
Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the ...
Natália Bauab Jorge, Adriana Maria Alves de Tommaso, Gabriel Hessel   +2 more
doaj   +2 more sources

Glucose production in type I glycogen storage disease

The Journal of Pediatrics, 1982
Satish C. Kalhan, Carol Gilfillan, Kou Yi Tserng, Samuel M. Savin   +3 more
openalex   +3 more sources