Results 251 to 260 of about 38,348 (306)

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   +1 more source

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]

BMC Med Genomics
Kasmi Z, Ain El Hayat I, Aadam Z, Errami A, Benhsaien I, El Bakkouri J, Ben Sabbahia D, Atrassi M, Bousfiha AA, Ailal F.   +9 more
europepmc   +1 more source

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy. [PDF]

Mol Diagn Ther
Milosevic MD, Skakic A, Kecman B, Stankovic S, Kovacevic I, Pavlovic S, Stojiljkovic M.   +6 more
europepmc   +1 more source

Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]

BMC Med Genomics
Kasmi Z, Ain El Hayat I, Aadam Z, Errami A, Benhsaien I, El Bakkouri J, Ben Sabbahia D, Atrassi M, Bousfiha AA, Ailal F.   +9 more
europepmc   +1 more source

Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease). [PDF]

Ann Indian Acad Neurol
Gupta M, Sangeeth TA, Sukrutha R, Udupi GA, Kumar RS, Nanjegowda NB, Kulkarni GB.   +6 more
europepmc   +1 more source

Hyperammonemia associated with glycogen storage disease type I

The Turkish Journal of Pediatrics, 1982
M Tunçer, H Yalçin, I Ozalp, M Cağlar
doaj  

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

JAMA Netw Open
Xia Y, Sun Y, Du T, Sun C, Xu Y, Ge W, Liang L, Wang R, Sun M, Xiao B, Qiu W.   +10 more
europepmc   +1 more source