Results 141 to 150 of about 1,993 (190)

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry. [PDF]

Sci Rep
Han D, Tao Y, Li J, Wang L, Song W, Li X.   +5 more
europepmc   +1 more source

Small-molecule CBLB inhibitor abolishes EGFR ubiquitination, reduces receptor endocytosis, and diminishes cell motility signaling. [PDF]

Proc Natl Acad Sci U S A
Pinilla-Macua I, Mukerji R, Cohen F, Sorkin A.   +3 more
europepmc   +1 more source

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development. [PDF]

Differentiation
Chern T, Tong X, Bauer WG, Quispe-Parra DJ, Gao X, Gerner-Mauro KN, Poché RA.   +6 more
europepmc   +1 more source

Diverse Clinical manifestations of Cobalamin C Metabolism Disorders. [PDF]

Iran J Child Neurol
Eslamiyeh H.
europepmc   +1 more source

Transcriptomic landscape of airway epithelial repair: Contrasting acute and chronic injury in mustard lung and COPD. [PDF]

J Genet Eng Biotechnol
Arabfard M, Salehi Z, Ghanei M, Jamalkandi SA.   +3 more
europepmc   +1 more source

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients. [PDF]

Sci Rep
Fathi M, Khalilian S, Miryounesi M, Ghafouri-Fard S.   +3 more
europepmc   +1 more source

Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease. [PDF]

Eur Biophys J
Longo L, Costa MA, Carrotta R, Mangione MR, Martorana V, Tutone M, Ortore MG, Garcia-Franco PM, Vega S, Velazquez-Campoy A, Passantino R, Vilasi S.   +11 more
europepmc   +1 more source

The cobalamin processing enzyme of Trichoplax adhaerens. [PDF]

J Biol Chem
Krams C, Esser AJ, Klenzendorf M, Klotz K, Spiekerkoetter U, Jacobsen DW, Smith CA, Maggiolo AO, Hannibal L.   +8 more
europepmc   +1 more source

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases. [PDF]

Arch Clin Cases
Kodali AT, Schrunder ER, Kennedy LS, Chamberlin MD, Pineda CUA.   +4 more
europepmc   +1 more source

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI. [PDF]

Front Radiol
Ran Y, Li W, Huo Y, Yu S, Dong Z, Tian C.   +5 more
europepmc   +1 more source