668 related articles for article (PubMed ID: 32451238)
21. Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Al-Dirbashi OY; Alfadhel M; Al-Thihli K; Al Dhahouri N; Langhans CD; Al Hammadi Z; Al-Shamsi A; Hertecant J; Okun JG; Hoffmann GF; Al-Jasmi F
Sci Rep; 2019 Aug; 9(1):12366. PubMed ID: 31451751
[TBL] [Abstract][Full Text] [Related]
22. New insights into the pathophysiology of methylmalonic acidemia.
Head PE; Meier JL; Venditti CP
J Inherit Metab Dis; 2023 May; 46(3):436-449. PubMed ID: 37078237
[TBL] [Abstract][Full Text] [Related]
23. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR; Hörster F; Dionisi-Vici C; Haliloglu G; Karall D; Chapman KA; Huemer M; Hochuli M; Assoun M; Ballhausen D; Burlina A; Fowler B; Grünert SC; Grünewald S; Honzik T; Merinero B; Pérez-Cerdá C; Scholl-Bürgi S; Skovby F; Wijburg F; MacDonald A; Martinelli D; Sass JO; Valayannopoulos V; Chakrapani A
Orphanet J Rare Dis; 2014 Sep; 9():130. PubMed ID: 25205257
[TBL] [Abstract][Full Text] [Related]
24. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
Chandler RJ; Sloan J; Fu H; Tsai M; Stabler S; Allen R; Kaestner KH; Kazazian HH; Venditti CP
BMC Med Genet; 2007 Oct; 8():64. PubMed ID: 17937813
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
Rincón A; Aguado C; Desviat LR; Sánchez-Alcudia R; Ugarte M; Pérez B
Am J Hum Genet; 2007 Dec; 81(6):1262-70. PubMed ID: 17966092
[TBL] [Abstract][Full Text] [Related]
27. Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia.
He W; Wang Y; Xie EJ; Barry MA; Zhang GF
Mol Genet Metab; 2021 Nov; 134(3):257-266. PubMed ID: 34635437
[TBL] [Abstract][Full Text] [Related]
28. Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation.
He W; Marchuk H; Koeberl D; Kasumov T; Chen X; Zhang GF
Commun Biol; 2024 May; 7(1):659. PubMed ID: 38811689
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia.
Subramanian C; Frank MW; Tangallapally R; Yun MK; White SW; Lee RE; Rock CO; Jackowski S
J Inherit Metab Dis; 2023 Jan; 46(1):28-42. PubMed ID: 36251252
[TBL] [Abstract][Full Text] [Related]
31. A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency.
van den Berg H; Boelkens MT; Hommes FA
Acta Paediatr Scand; 1976 Jan; 65(1):113-8. PubMed ID: 3087
[TBL] [Abstract][Full Text] [Related]
32. Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD).
Henriquez H; el Din A; Ozand PT; Subramanyam SB; al Gain SI
Brain Dev; 1994 Nov; 16 Suppl():86-93. PubMed ID: 7726386
[TBL] [Abstract][Full Text] [Related]
33. Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
Baumgartner ER; Bachmann C; Brechbühler T; Wick H
Pediatr Res; 1975 Jul; 9(7):559-64. PubMed ID: 240144
[TBL] [Abstract][Full Text] [Related]
34. Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
Al-Dirbashi OY; McIntosh N; Chakraborty P
J Med Screen; 2017 Jun; 24(2):58-61. PubMed ID: 27216769
[TBL] [Abstract][Full Text] [Related]
35. Compartmentation of Metabolism of the C12-, C9-, and C5-n-dicarboxylates in Rat Liver, Investigated by Mass Isotopomer Analysis: ANAPLEROSIS FROM DODECANEDIOATE.
Jin Z; Bian F; Tomcik K; Kelleher JK; Zhang GF; Brunengraber H
J Biol Chem; 2015 Jul; 290(30):18671-7. PubMed ID: 26070565
[TBL] [Abstract][Full Text] [Related]
36. Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia.
Subramanian C; Frank MW; Tangallapally R; Yun MK; Edwards A; White SW; Lee RE; Rock CO; Jackowski S
Sci Transl Med; 2021 Sep; 13(611):eabf5965. PubMed ID: 34524863
[TBL] [Abstract][Full Text] [Related]
37. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
Almási T; Guey LT; Lukacs C; Csetneki K; Vokó Z; Zelei T
Orphanet J Rare Dis; 2019 Apr; 14(1):84. PubMed ID: 31023387
[TBL] [Abstract][Full Text] [Related]
38. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I; Gebremariam A; McCoy S; Pass AR; Gagné J; Hall C; Ferry S; Van Ryzin C; Sloan JL; Sacchetti E; Catesini G; Rizzo C; Martinelli D; Spada M; Dionisi-Vici C; Venditti CP
J Inherit Metab Dis; 2023 Jul; 46(4):554-572. PubMed ID: 37243446
[TBL] [Abstract][Full Text] [Related]
39. Methylmalonic acidemia (MMA).
Tanpaiboon P
Mol Genet Metab; 2005 May; 85(1):2-6. PubMed ID: 15959932
[No Abstract] [Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
