Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29). [PDF]
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]
Sitaram S +11 more
europepmc +1 more source
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects. [PDF]
de Boer L +6 more
europepmc +1 more source
Ringversuch zu radioimmunologischen Thyrotropinbestimmung (hTSH) im Serum [PDF]
Erhardt, F. +2 more
core
Uracil and beta-alanine degradation in Saccharomyces Kluyveri - discovery of a novel catabolic pathway [PDF]
Andersen, Gorm
core
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders [PDF]
core +1 more source
Guanine is an inhibitor of c-jun terminal kinases. [PDF]
Treeby J +10 more
europepmc +1 more source
Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]
Mentis AA, Dalamaga M.
europepmc +1 more source
Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India. [PDF]
Tamrakar A +7 more
europepmc +1 more source
Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency. [PDF]
Rousselot-Pailley B +12 more
europepmc +1 more source

