Results 101 to 110 of about 6,242,042 (194)

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study. [PDF]

J Inherit Metab Dis
Uçar SK, Mungan NÖ, Gökçay GF, Zeybek AÇA, Kılavuz S, Güneş S, Kardaş F, Kısa PT, Çıkı K, Yavaş AK, Kahraman AB, Çelik MY, Canda E, Kor D, Karaca M, Zübarioğlu T, Genç E, Yazıcı H, Bulut FD, Kılıç Ş, Aghakıshılı H, Karapınar FE, Burgaç E, Kıykım E, Elek A, Kardaş N, Ünal E, Karapınar TH, Albayrak M, Albayrak C, Ünüvar A, Wortmann SB, Karapınar DY.   +32 more
europepmc   +1 more source

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle. [PDF]

Clin Case Rep
Shah RK, Khan SA, Devkota D, Aryal M, Subedi N, Aryal B, Gurubacharya B, Parajuli S, Gupta A, Parajuli SB, Kausar H.   +10 more
europepmc   +1 more source

Development and Preliminary Psychometric Evaluation of the Glycogen Storage Disease Type Ia Functional Assessment Diary (GSD FAD). [PDF]

Patient Prefer Adherence
Turner-Bowker DM, Egan S, Butler J, Jewett A, Mitragotri D, Foster B, Skrinar A, Theodore-Oklota C.   +7 more
europepmc   +1 more source

Mosaic pathogenic <i>PRKAG2</i> variant and pathologic diagnosis of glycogen storage disease in an infant with negative whole-genome sequencing. [PDF]

JHLT Open
Cabido V, Huang Y, Halnon N, Fan J, Touma M, Fishbein GA, Husain M.   +6 more
europepmc   +1 more source

RNA sequencing resolves a novel noncanonical splice-region variant in <i>PHKA2</i> causing glycogen storage disease type IX α2: a case report. [PDF]

Transl Pediatr
Chen F, He J, Cheng H, Shu S.
europepmc   +1 more source

Effects of Extended-Release Cornstarch Supplementation on Glycemic Stability and Metabolic Parameters in Korean Patients with Glycogen Storage Disease. [PDF]

Nutrients
Han J, Kim M, Lee NY, Kang Y.
europepmc   +1 more source

Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum. [PDF]

World J Clin Pediatr
Samanta A, Ray G.
europepmc   +1 more source

Glycogen Storage Disease [PDF]

, 2020
openaire   +1 more source

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. [PDF]

J Neurol
Hogrel JY, Fer F, Ledoux I, Petit F, Darce-Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforêt P, Decostre V.   +11 more
europepmc   +1 more source

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc. [PDF]

Orphanet J Rare Dis
Sun C, Du T, Xia Y, Jiang L, Sun M, Liang L, Zhang K, Yang Y, Sun Y, Wang R, Sun Y, Xiao B, Qiu W.   +12 more
europepmc   +1 more source