Results 121 to 130 of about 6,242,042 (194)

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries. [PDF]

Mol Genet Metab Rep
Magner M, Šáhó R, Slavíková P, Bakaľár R, Dvořáková L, Pešková K, Ramadža DP, Barić I, Ilic N, Čechová A, Řeboun M, Vlášková H, Kelifová S, Ješina P, Procházková D, Hansíková H, Honzík T, Zeman J.   +17 more
europepmc   +1 more source

Improvement of Symptoms in a Patient With Glycogen Storage Disease Through Nutritional Guidance and Exercise Therapy. [PDF]

JCEM Case Rep
Morita T, Murakami T, Okamura E, Matsushiro M, Ito S, Yabe D.   +5 more
europepmc   +1 more source

Noninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report. [PDF]

Transl Pediatr
Kingdon T, Ganta S, Shayan K, Schuchardt EL, Gomez-Arostegui J, Vellore Govardhan S.   +5 more
europepmc   +1 more source

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia. [PDF]

PLoS One
Al-Hussaini A, AlMannai M, Alruwaithi M, Faqeih E, Alasmari A, Alfadhel M, Al Mutairi F, Saleh M, AlZaben A, Alobailan Y, Alharbi M, AlAfqi M, Alayed A, Peer-Zada AA, Alrusayni Y.   +14 more
europepmc   +1 more source

Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2. [PDF]

Sci Adv
Gibson RA, Jeck WR, Koch RL, Jumani N, Choi SJ, Bali D, Young SP, Asokan A, Lim JA, Kishnani PS.   +9 more
europepmc   +1 more source

Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Cui L, Gao J, Song Y, Fan Y, Yang M.   +5 more
europepmc   +1 more source

Hepatocyte-specific Cas9-mediated editing of G6pc and Slc37a4 elicits comparable biochemical and regulatory responses between glycogen storage disease (GSD) type Ia and Ib mice. [PDF]

Mol Metab
Krishnamurthy KA, Xiao R, Rutten MGS, Bos T, Bleeker A, Zhang M, de Vries HI, Koster M, Huijkman N, Smit M, Kloosterhuis N, Boer T, Schomakers B, van Weeghel M, van de Sluis B, Wolters JC, Bakker BM, Oosterveer MH.   +17 more
europepmc   +1 more source

Efficacious genome editing in infant mice with glycogen storage disease type Ia. [PDF]

JCI Insight
Arnson B, Ilich E, von Beck T, Li S, Brooks ED, Gheorghiu D, He G, Weinrub M, Chan SY, Kang HR, Courtney D, Everitt JI, Cullen BR, Koeberl DD.   +13 more
europepmc   +1 more source

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <i>GBE1</i>-Related Disease. [PDF]

JIMD Rep
Koch RL, Akman HO, Chown E, Goldman D, Levenson J, Lu Q, Michalovicz Gill LT, Morgan M, Orthmann-Murphy JL, Pires NT, Reef R, Saxe H, Singer-Berk M, Baxter S.   +13 more
europepmc   +1 more source

Empagliflozin as treatment in glycogen storage disease type IB patients. [PDF]

Mol Genet Metab Rep
Arbelo Rodríguez M, Márquez Mesa E, Lorenzo González C, Gutiérrez Vilar M, Arhip L, Ruiz Pons M, Suárez Llanos JP.   +6 more
europepmc   +1 more source