132 related articles for article (PubMed ID: 2066863)
21. [The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
Giardini O; Marzetti G; Lubrano R; Laurenti F; Martino F; Mannarino O; D'Eufemia P; Ruberto U
Minerva Pediatr; 1980 Sep; 32(17):1039-46. PubMed ID: 6109233
[No Abstract] [Full Text] [Related]
22. Enamel defects and salivary methylmalonate in methylmalonic acidemia.
Bassim CW; Wright JT; Guadagnini JP; Muralidharan R; Sloan J; Domingo DL; Venditti CP; Hart TC
Oral Dis; 2009 Apr; 15(3):196-205. PubMed ID: 19143946
[TBL] [Abstract][Full Text] [Related]
23. In vitro "responsive" methylmalonic acidemia: a new variant.
Kaye CI; Morrow G; Nadler HL
J Pediatr; 1974 Jul; 85(1):55-9. PubMed ID: 4852378
[No Abstract] [Full Text] [Related]
24. Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.
Whelan DT; Ryan E; Spate M; Morris M; Hurley RM; Hill R
Can Med Assoc J; 1979 May; 120(10):1230-5. PubMed ID: 36217
[TBL] [Abstract][Full Text] [Related]
25. Toxigenic and metabolic causes of ketosis and ketoacidotic syndromes.
Cartwright MM; Hajja W; Al-Khatib S; Hazeghazam M; Sreedhar D; Li RN; Wong-McKinstry E; Carlson RW
Crit Care Clin; 2012 Oct; 28(4):601-31. PubMed ID: 22998993
[TBL] [Abstract][Full Text] [Related]
26. Screening of high risk infants for metabolic disease in a metropolitan hospital.
Krieger IE; Nigro M; Sarnaik A; Taqi Q
J Inherit Metab Dis; 1981; 4(2):81-2. PubMed ID: 6790858
[No Abstract] [Full Text] [Related]
27. Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.
Cogan DG; Schulman J; Porter RJ; Mudd SH
Am J Ophthalmol; 1980 Aug; 90(2):251-3. PubMed ID: 7425038
[TBL] [Abstract][Full Text] [Related]
28. Neuropathology of methylmalonic acidemia in a child.
Kanaumi T; Takashima S; Hirose S; Kodama T; Iwasaki H
Pediatr Neurol; 2006 Feb; 34(2):156-9. PubMed ID: 16458832
[TBL] [Abstract][Full Text] [Related]
29. Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia.
Thompson GN; Walter JH; Bresson JL; Ford GC; Bonnefont JP; Chalmers RA; Saudubray JM; Leonard JV; Halliday D
J Pediatr; 1989 Nov; 115(5 Pt 1):735-9. PubMed ID: 2809905
[TBL] [Abstract][Full Text] [Related]
30. Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism.
Wendel U; Baumgartner R; van der Meer SB; Spaapen LJ
Pediatr Res; 1991 Apr; 29(4 Pt 1):403-5. PubMed ID: 1852536
[TBL] [Abstract][Full Text] [Related]
31. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report.
Keating JP; Feigin RD; Tenenbaum SM; Hillman RE
Pediatrics; 1972 Dec; 50(6):890-5. PubMed ID: 4636454
[No Abstract] [Full Text] [Related]
32. [Vitamin-B12-dependent methylmalonic acidemia in twins].
Karsten J; Hansen HG; Heuer R; Wulff UC; Kneer J
Monatsschr Kinderheilkd; 1983 May; 131(5):289-92. PubMed ID: 6877249
[TBL] [Abstract][Full Text] [Related]
33. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP; Gradinger AB; Watkins D; Tirone JC; Villeneuve A; Dobson CM; Montpetit A; Lepage P; Gravel RA; Rosenblatt DS
Mol Genet Metab; 2006 Mar; 87(3):219-25. PubMed ID: 16410054
[TBL] [Abstract][Full Text] [Related]
34. Progressive renal insufficiency in methylmalonic acidemia.
Molteni KH; Oberley TD; Wolff JA; Friedman AL
Pediatr Nephrol; 1991 May; 5(3):323-6. PubMed ID: 1867988
[TBL] [Abstract][Full Text] [Related]
35. [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]
36. Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.
Coude M; Bonnefont JP; Charpentier C; Chadefaux B; Saudubray JM; Kamoun P
J Inherit Metab Dis; 1989; 12(1):95-6. PubMed ID: 2501591
[No Abstract] [Full Text] [Related]
37. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Quadros EV; Lai SC; Nakayama Y; Sequeira JM; Hannibal L; Wang S; Jacobsen DW; Fedosov S; Wright E; Gallagher RC; Anastasio N; Watkins D; Rosenblatt DS
Hum Mutat; 2010 Aug; 31(8):924-9. PubMed ID: 20524213
[TBL] [Abstract][Full Text] [Related]
38. A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.
Levy HL; Mudd SH; Schulman JD; Dreyfus PM; Abeles RH
Am J Med; 1970 Mar; 48(3):390-7. PubMed ID: 5435651
[No Abstract] [Full Text] [Related]
39. Diagnosis of urea cycle disorders.
Palmer T; Oberholzer VG
Ann Clin Biochem; 1977 May; 14(3):136-8. PubMed ID: 17345
[No Abstract] [Full Text] [Related]
40. [Methyl malonic acidemia with hyperuricemic nephropathy].
Broyer M; Guesry P; Burgess EA; Charpentier C; Lemonnier A
Arch Fr Pediatr; 1974; 31(6):543-52. PubMed ID: 4441234
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]