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UnknownPropionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles.
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S-EPMC11356709 | biostudies-literature
UnknownImproved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.
Not available
S-EPMC11670441 | biostudies-literature
UnknownNovel and recurrent ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome.
Not available
S-EPMC3057174 | biostudies-literature
UnknownCurrent understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders
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S-EPMC10160627 | biostudies-literature
UnknownVisual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.
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S-EPMC2888988 | biostudies-literature
UnknownNew multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.
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S-EPMC12856316 | biostudies-literature
UnknownLong term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
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S-EPMC4359492 | biostudies-literature
UnknownSingle Amino Acid Supplementation in Inherited Metabolic Disorders: An Evidence-Based Review of Interventions.
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S-EPMC12111424 | biostudies-literature
UnknownHypoglycaemia Metabolic Gene Panel Testing.
Not available
S-EPMC9001947 | biostudies-literature
UnknownGlycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
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S-EPMC9208159 | biostudies-literature
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