Found: 14
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Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
- Published in:
- Nutrients, 2023, v. 15, n. 3, p. 531, doi. 10.3390/nu15030531
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- Publication type:
- Article
Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84.
- Published in:
- FASEB Journal, 2019, v. 33, n. 11, p. 12264, doi. 10.1096/fj.201900234R
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- Publication type:
- Article
Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays.
- Published in:
- 2023
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- Publication type:
- Case Study
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020025
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- Publication type:
- Article
Intronic variants in inborn errors of metabolism: Beyond the exome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1031495
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- Publication type:
- Article
3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 568, doi. 10.1002/jmd2.12332
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- Publication type:
- Article
A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 271, doi. 10.1002/jmd2.12289
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- Publication type:
- Article
Inborn errors of metabolism refuse to stay‐at‐home: Experiences of a state‐wide biochemical genetics service during the COVID‐19 pandemic.
- Published in:
- Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 247, doi. 10.1111/jpc.16273
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- Publication type:
- Article
Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.
- Published in:
- Journal of Paediatrics & Child Health, 2021, v. 57, n. 10, p. 1703, doi. 10.1111/jpc.15365
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- Publication type:
- Article
Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 10, p. 1444, doi. 10.1373/clinchem.2011.163139
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- Publication type:
- Article
Individual responses to chemotherapy-induced oxidative stress.
- Published in:
- 2011
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- Publication type:
- Report
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2084, doi. 10.1093/hmg/ddad035
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- Publication type:
- Article
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 5, p. 665, doi. 10.1002/mus.21933
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- Publication type:
- Article