275 related articles for article (PubMed ID: 32143654)
1. Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.
Haijes HA; Jans JJM; van der Ham M; van Hasselt PM; Verhoeven-Duif NM
Orphanet J Rare Dis; 2020 Mar; 15(1):68. PubMed ID: 32143654
[TBL] [Abstract][Full Text] [Related]
2. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Collado MS; Armstrong AJ; Olson M; Hoang SA; Day N; Summar M; Chapman KA; Reardon J; Figler RA; Wamhoff BR
Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
[TBL] [Abstract][Full Text] [Related]
3. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Pillai NR; Stroup BM; Poliner A; Rossetti L; Rawls B; Shayota BJ; Soler-Alfonso C; Tunuguntala HP; Goss J; Craigen W; Scaglia F; Sutton VR; Himes RW; Burrage LC
Mol Genet Metab; 2019 Dec; 128(4):431-443. PubMed ID: 31757659
[TBL] [Abstract][Full Text] [Related]
4. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Molema F; Gleich F; Burgard P; van der Ploeg AT; Summar ML; Chapman KA; Lund AM; Rizopoulos D; Kölker S; Williams M;
Mol Genet Metab; 2019 Apr; 126(4):397-405. PubMed ID: 30827756
[TBL] [Abstract][Full Text] [Related]
5. 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?
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
J Inherit Metab Dis; 2020 May; 43(3):424-437. PubMed ID: 31828787
[TBL] [Abstract][Full Text] [Related]
6. Biomarkers for drug development in propionic and methylmalonic acidemias.
Longo N; Sass JO; Jurecka A; Vockley J
J Inherit Metab Dis; 2022 Mar; 45(2):132-143. PubMed ID: 35038174
[TBL] [Abstract][Full Text] [Related]
7. Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Maines E; Catesini G; Boenzi S; Mosca A; Candusso M; Dello Strologo L; Martinelli D; Maiorana A; Liguori A; Olivieri G; Taurisano R; Piemonte F; Rizzo C; Spada M; Dionisi-Vici C
J Inherit Metab Dis; 2020 Nov; 43(6):1173-1185. PubMed ID: 32681732
[TBL] [Abstract][Full Text] [Related]
8. Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
Myles JG; Manoli I; Venditti CP
Curr Opin Clin Nutr Metab Care; 2018 Jan; 21(1):42-48. PubMed ID: 29035969
[TBL] [Abstract][Full Text] [Related]
9. Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
Yap S; Lamireau D; Feillet F; Ruiz Gomez A; Davison J; Tangeraas T; Giordano V
Drugs R D; 2024 Mar; 24(1):69-80. PubMed ID: 38198106
[TBL] [Abstract][Full Text] [Related]
10. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M; Nashabat M; Saleh M; Elamin M; Alfares A; Al Othaim A; Umair M; Ahmed H; Ababneh F; Al Mutairi F; Eyaid W; Alswaid A; Alohali L; Faqeih E; Almannai M; Aljeraisy M; Albdah B; Hussein MA; Rahbeeni Z; Alasmari A
Orphanet J Rare Dis; 2021 Oct; 16(1):422. PubMed ID: 34635114
[TBL] [Abstract][Full Text] [Related]
11. Long-term liver disease in methylmalonic and propionic acidemias.
Imbard A; Garcia Segarra N; Tardieu M; Broué P; Bouchereau J; Pichard S; de Baulny HO; Slama A; Mussini C; Touati G; Danjoux M; Gaignard P; Vogel H; Labarthe F; Schiff M; Benoist JF
Mol Genet Metab; 2018 Apr; 123(4):433-440. PubMed ID: 29433791
[TBL] [Abstract][Full Text] [Related]
12. A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Armstrong AJ; Collado MS; Henke BR; Olson MW; Hoang SA; Hamilton CA; Pourtaheri TD; Chapman KA; Summar MM; Johns BA; Wamhoff BR; Reardon JE; Figler RA
Mol Genet Metab; 2021 May; 133(1):71-82. PubMed ID: 33741272
[TBL] [Abstract][Full Text] [Related]
13. Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes.
Critelli K; McKiernan P; Vockley J; Mazariegos G; Squires RH; Soltys K; Squires JE
Liver Transpl; 2018 Sep; 24(9):1260-1270. PubMed ID: 30080956
[TBL] [Abstract][Full Text] [Related]
14. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Monostori P; Klinke G; Richter S; Baráth Á; Fingerhut R; Baumgartner MR; Kölker S; Hoffmann GF; Gramer G; Okun JG
PLoS One; 2017; 12(9):e0184897. PubMed ID: 28915261
[TBL] [Abstract][Full Text] [Related]
15. Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Monostori P; Godejohann M; Janda J; Galla Z; Rácz G; Klinke G; Szatmári I; Zsidegh P; Kohlmüller D; Kölker S; Hoffmann GF; Gramer G; Okun JG
Clin Biochem; 2023 Jan; 111():72-80. PubMed ID: 36202155
[TBL] [Abstract][Full Text] [Related]
16. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M; Ottolenghi C; Valayannopoulos V; Arnoux JB; Barbier V; Habarou F; Desguerre I; Boddaert N; Bonnefont JP; Acquaviva C; Benoist JF; Rabier D; Touati G; de Lonlay P
Orphanet J Rare Dis; 2013 Sep; 8():148. PubMed ID: 24059531
[TBL] [Abstract][Full Text] [Related]
17. Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
Anzmann AF; Pinto S; Busa V; Carlson J; McRitchie S; Sumner S; Pandey A; Vernon HJ
Biochim Biophys Acta Mol Basis Dis; 2019 Dec; 1865(12):165538. PubMed ID: 31449969
[TBL] [Abstract][Full Text] [Related]
18. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Nashabat M; Obaid A; Al Mutairi F; Saleh M; Elamin M; Ahmed H; Ababneh F; Eyaid W; Alswaid A; Alohali L; Faqeih E; Aljeraisy M; Hussein MA; Alasmari A; Alfadhel M
BMC Pediatr; 2019 Jun; 19(1):195. PubMed ID: 31196016
[TBL] [Abstract][Full Text] [Related]
19. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
Malvagia S; Haynes CA; Grisotto L; Ombrone D; Funghini S; Moretti E; McGreevy KS; Biggeri A; Guerrini R; Yahyaoui R; Garg U; Seeterlin M; Chace D; De Jesus VR; la Marca G
Clin Chim Acta; 2015 Oct; 450():342-8. PubMed ID: 26368264
[TBL] [Abstract][Full Text] [Related]
20. Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
Molema F; Gleich F; Burgard P; van der Ploeg AT; Summar ML; Chapman KA; Barić I; Lund AM; Kölker S; Williams M;
J Inherit Metab Dis; 2019 Nov; 42(6):1162-1175. PubMed ID: 30734935
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
