Diagnóstico AO

Haijes HA, Jans JJM, Tas SY, Verhoeven-Duif NM, van Hasselt PM.

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.

J Inherit Metab Dis. 2019 ;42(5):730-744. 

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Mobarak A, Dawoud H, Mokhtar WA, Sadek AA, Bebars GM, Othman AA, Magdy RM, Nofal H, Zoair A.

Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation.

Int J Pediatr. 2020 Nov 21;2020:7653716

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Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM.

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

J Inherit Metab Dis. 2020 May;43(3):424-437

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Wajner M.

Neurological manifestations of organic acidurias.

Nat Rev Neurol. 2019 May;15(5):253-271

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Dai M, Xiao B, Zhang H, Ye J, Qiu W, Zhu H, Wang L, Liang L, Zhan X, Ji W, Wang Y, Yu Y, Gu X, Han L.

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

Orphanet J Rare Dis. 2020 Oct 7;15(1):276

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Molema F, Jacobs EH, Onkenhout W, Schoonderwoerd GC, Langendonk JG, Williams M.

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.

J Inherit Metab Dis. 2018 Nov;41(6):1179-1187

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