Results 131 to 140 of about 6,449 (175)

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

DPAGT1-CDG [PDF]

, 2020
openaire   +1 more source

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +1 more source

ALG2-CDG [PDF]

, 2020
openaire   +1 more source

A probabilistic framework for effective battery energy storage sizing in microgrids with demand response. [PDF]

Sci Rep
Alamir N, Kamel S, Megahed TF, Hori M, Abdelkader SM.   +4 more
europepmc   +1 more source

ALG9-CDG [PDF]

, 2020
openaire   +1 more source

Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead. [PDF]

Biomedicines
Abu Bakar N, Hamzan NI.
europepmc   +1 more source

DPM3-CDG [PDF]

, 2020
openaire   +1 more source

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report. [PDF]

Cureus
Khan Z, Jafri M, Lambroussis CG.
europepmc   +1 more source

PMM2-CDG [PDF]

, 2020
openaire   +1 more source