422 related articles for article (PubMed ID: 16602092)
1. Methylmalonic and propionic aciduria.
Deodato F; Boenzi S; Santorelli FM; Dionisi-Vici C
Am J Med Genet C Semin Med Genet; 2006 May; 142C(2):104-12. PubMed ID: 16602092
[TBL] [Abstract][Full Text] [Related]
2. Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy.
Winter S; Birek L; Walker T; Phalin-Roque J; Chandler MJ; Field C; Zorn E
Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():152-3. PubMed ID: 11400757
[TBL] [Abstract][Full Text] [Related]
3. Branched-chain organic acidurias.
Ogier de Baulny H; Saudubray JM
Semin Neonatol; 2002 Feb; 7(1):65-74. PubMed ID: 12069539
[TBL] [Abstract][Full Text] [Related]
4. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
[TBL] [Abstract][Full Text] [Related]
5. [Diagnosis and treatment of methylmalonic aciduria: a case report].
Mahfoud A; Domínguez CL; Pérez A; Rizzo C; Merinero B; Pérez B
Invest Clin; 2007 Mar; 48(1):99-105. PubMed ID: 17432548
[TBL] [Abstract][Full Text] [Related]
6. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
Dionisi-Vici C; Deodato F; Röschinger W; Rhead W; Wilcken B
J Inherit Metab Dis; 2006; 29(2-3):383-9. PubMed ID: 16763906
[TBL] [Abstract][Full Text] [Related]
7. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
Bikker H; Bakker HD; Abeling NG; Poll-The BT; Kleijer WJ; Rosenblatt DS; Waterham HR; Wanders RJ; Duran M
Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391
[TBL] [Abstract][Full Text] [Related]
8. [Carnitine in the treatment of methylmalonic aciduria (MMA)].
Penn D; Schmidt H; Otten A; Schmidt-Sommerfeld E
Monatsschr Kinderheilkd; 1986 Oct; 134(10):758-61. PubMed ID: 2879226
[TBL] [Abstract][Full Text] [Related]
9. Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
Wajner M; Coelho Dde M; Ingrassia R; de Oliveira AB; Busanello EN; Raymond K; Flores Pires R; de Souza CF; Giugliani R; Vargas CR
Clin Chim Acta; 2009 Feb; 400(1-2):77-81. PubMed ID: 18992233
[TBL] [Abstract][Full Text] [Related]
10. [Diagnosis and follow up of 23 children with organic acidurias].
Cornejo V; Colombo M; Durán G; Mabe P; Jiménez M; De la Parra A; Valiente A; Raimann E
Rev Med Chil; 2002 Mar; 130(3):259-66. PubMed ID: 12043367
[TBL] [Abstract][Full Text] [Related]
11. Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.
Coulombe JT; Shih VE; Levy HL
Pediatrics; 1981 Jan; 67(1):26-31. PubMed ID: 7243433
[TBL] [Abstract][Full Text] [Related]
12. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Kaplan P; Ficicioglu C; Mazur AT; Palmieri MJ; Berry GT
Mol Genet Metab; 2006 Aug; 88(4):322-6. PubMed ID: 16750411
[TBL] [Abstract][Full Text] [Related]
13. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
Haarmann A; Mayr M; Kölker S; Baumgartner ER; Schnierda J; Hopfer H; Devuyst O; Baumgartner MR
Mol Genet Metab; 2013 Dec; 110(4):472-6. PubMed ID: 24095221
[TBL] [Abstract][Full Text] [Related]
14. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
Dobson CM; Gradinger A; Longo N; Wu X; Leclerc D; Lerner-Ellis J; Lemieux M; Belair C; Watkins D; Rosenblatt DS; Gravel RA
Mol Genet Metab; 2006 Aug; 88(4):327-33. PubMed ID: 16697227
[TBL] [Abstract][Full Text] [Related]
15. Management of West syndrome in a patient with methylmalonic aciduria.
Campeau PM; Valayannopoulos V; Touati G; Bahi-Buisson N; Boddaert N; Plouin P; Rabier D; Benoist JF; Dulac O; de Lonlay P; Desguerre I
J Child Neurol; 2010 Jan; 25(1):94-7. PubMed ID: 19700743
[TBL] [Abstract][Full Text] [Related]
16. Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite Brethren.
Fowlow SB; Holmes TM; Morgan K; Snyder FF
Am J Med Genet; 1985 Nov; 22(3):513-9. PubMed ID: 2865895
[TBL] [Abstract][Full Text] [Related]
17. [Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].
Saudubray JM; Charpentier C; Coude FX; Ogier H; Pham Dinh D; Bartlett K; Gompertz D
Arch Fr Pediatr; 1980; 37 Suppl 2():IX-XIV. PubMed ID: 6108749
[TBL] [Abstract][Full Text] [Related]
18. [Metabolic disorders of branched-chain amino acids: most common forms of organic aciduria in the neonatal period].
Sperl W; Lehnert W
Klin Padiatr; 1990; 202(5):334-9. PubMed ID: 2214593
[TBL] [Abstract][Full Text] [Related]
19. Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.
Chen PW; Hwu WL; Ho MC; Lee NC; Chien YH; Ni YH; Lee PH
Pediatr Transplant; 2010 May; 14(3):337-41. PubMed ID: 19686300
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
