Results 71 to 80 of about 1,288 (135)

Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29). [PDF]

open access: yesInt J Mol Sci, 2022
Pastor-Anglada M   +2 more
europepmc   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy. [PDF]

open access: yesAm J Med Genet A, 2023
Sitaram S   +11 more
europepmc   +1 more source

Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects. [PDF]

open access: yesMol Genet Metab, 2023
de Boer L   +6 more
europepmc   +1 more source

Ringversuch zu radioimmunologischen Thyrotropinbestimmung (hTSH) im Serum [PDF]

open access: yes, 1976
Erhardt, F.   +2 more
core  

Guanine is an inhibitor of c-jun terminal kinases. [PDF]

open access: yesSci Rep
Treeby J   +10 more
europepmc   +1 more source

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency. [PDF]

open access: yesJ Inherit Metab Dis
Rousselot-Pailley B   +12 more
europepmc   +1 more source

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