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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 415, doi. 10.1002/jimd.12314
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- Article
Hyperglycinemia in a 5-Week-Old Boy with Pulmonary Arterial Hypertension.
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- Clinical Chemistry, 2022, v. 68, n. 4, p. 604, doi. 10.1093/clinchem/hvab223
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- Article
Recurrent Liver Failure in an 11-Year-Old Boy.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 8, p. 1115, doi. 10.1093/clinchem/hvaa136
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- Publication type:
- Article
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 9, p. 2828, doi. 10.1111/ene.15894
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- Article