Results 121 to 130 of about 1,755 (160)

Letter to the Editor Response. [PDF]

J Neurosurg Case Lessons
Nomura Y, Morita T, Ueno K, Watanabe R, Katagai T, Asano K, Saito A.   +6 more
europepmc   +1 more source

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]

J Inherit Metab Dis
Weixel T, Adedipe D, Muldoon G, Lam C, Krasnewich D, Thurm A, Wolfe L.   +6 more
europepmc   +1 more source

Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case. [PDF]

J Neurosurg Case Lessons
Nomura Y, Morita T, Ueno K, Watanabe R, Katagai T, Asano K, Saito A.   +6 more
europepmc   +1 more source

Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia? [PDF]

Biol Direct
Peggion C, Marchionni I, Carafoli E, Brini M, Calì T.   +4 more
europepmc   +1 more source

Beyond GH stimulation tests: genetic heterogeneity and treatment response in children with diagnosed GH deficiency. [PDF]

J Endocr Soc
Plachy L, Dusatkova P, Kavciak L, Amaratunga SA, Slavenko M, Drabova J, Maratova K, Neuman V, Obermannova B, Kolouskova S, Snajderova M, Sumnik Z, Lebl J, Pruhova S.   +13 more
europepmc   +1 more source

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency. [PDF]

J Inherit Metab Dis
Jain A, Budhraja R, Garapati K, Lam C, Schultz MJ, Kozicz T, Morava E, Pandey A.   +7 more
europepmc   +1 more source