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UnknownMitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Not available
S-EPMC8649387 | biostudies-literature
UnknownClinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Not available
S-EPMC4158181 | biostudies-literature
UnknownArts syndrome is caused by loss-of-function mutations in PRPS1.
Not available
S-EPMC1950830 | biostudies-literature
UnknownCIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Not available
S-EPMC11788579 | biostudies-literature
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