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3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
Sasarman F, Ferdinandusse S, Sinasac DS, Fung E, Sparkes R, Reeves M, Rombough C, Sass JO, Voit R, Ruiter JPN, Koster J, Waterham HR, Pasquini E, Donati MA, Marquardt T, Wanders RJA, Al-Hertani W. Sasarman F, et al. Among authors: donati ma. J Inherit Metab Dis. 2022 May;45(3):445-455. doi: 10.1002/jimd.12486. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35174513
Self-mutilation in a patient with mucolipidosis III.
Zammarchi E, Savelli A, Donati MA, Pasquini E. Zammarchi E, et al. Among authors: donati ma. Pediatr Neurol. 1994 Jul;11(1):68-70. doi: 10.1016/0887-8994(94)90096-5. Pediatr Neurol. 1994. PMID: 7986298
Fructose-1,6-diphosphatase deficiency misdiagnosed as Reye syndrome.
Zammarchi E, Donati MA, Ciani F, Rubetti P, Pasquini E. Zammarchi E, et al. Among authors: donati ma. Clin Pediatr (Phila). 1995 Oct;34(10):561-4. doi: 10.1177/000992289503401011. Clin Pediatr (Phila). 1995. PMID: 8591687 No abstract available.
[Hyperglycinemia in clinical-laboratory practice].
Ciani F, Pasquini E, Ciardetti A, Donati MA, Zammarchi E. Ciani F, et al. Among authors: donati ma. Pediatr Med Chir. 1997 Mar-Apr;19(2):109-12. Pediatr Med Chir. 1997. PMID: 9312744 Italian.
Lethal late onset cblB methylmalonic aciduria.
Ciani F, Donati MA, Tulli G, Poggi GM, Pasquini E, Rosenblatt DS, Zammarchi E. Ciani F, et al. Among authors: donati ma. Crit Care Med. 2000 Jun;28(6):2119-21. doi: 10.1097/00003246-200006000-00078. Crit Care Med. 2000. PMID: 10890676
250 results