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Molecular Genetics and Metabolism|June 2, 2006
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthaseRita Hahnewald, Silke Leimkühler, Antonia Vilaseca, et al.
Molecular Genetics and Metabolism Reports|December 3, 2019
A novel variant m.8561C>T in the overlapping region of <i>MT-ATP6</i> and <i>MT-ATP8</i> in a child with early-onset severe neurological signsKonstantina Fragaki, Annabelle Chaussenot, Valerie Serre, et al.
Pediatric Nephrology (Berlin, Germany)|June 13, 2022
Genetic assessment in primary hyperoxaluria: why it mattersGiorgia Mandrile, Bodo Beck, Cecile Acquaviva, et al.
Urolithiasis|May 31, 2020
Plasma oxalate: comparison of methodologiesFelicity Stokes, Cecile Acquaviva-Bourdain, Bernd Hoppe, et al.
Muscle & Nerve|February 16, 2011
Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiencyPierre Kaminsky, Cecile Acquaviva-Bourdain, Jacques Jonas, et al.
Meta Gene|August 13, 2015
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS geneLatifa Chkioua, Souhir Khedhiri, Oussama Grissa, et al.
Human Mutation|May 30, 2009
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT geneEmma L Williams, Cecile Acquaviva, Antonio Amoroso, et al.
Kidney International|April 18, 2021
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3Cristina Martin-Higueras, Sander F Garrelfs, Jaap W Groothoff, et al.
Journal of Inherited Metabolic Disease|May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemiaCecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Human Molecular Genetics|November 22, 2013
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexesFrederic Tort, Xènia Ferrer-Cortès, Marta Thió, et al.
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