Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 59

PubMed (OMIM) Links for Gene (Select 4594)

1.

Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

Testai FD, Gorelick PB.

Arch Neurol. 2010 Feb;67(2):148-53. doi: 10.1001/archneurol.2009.333. Review.

PMID:
20142522
2.

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.

3.

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. Epub 2006 Jun 5.

PMID:
16750411
4.

Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.

Takeshima Y, Yagi M, Wada H, Ishibashi K, Nishiyama A, Kakumoto M, Sakaeda T, Saura R, Okumura K, Matsuo M.

Pediatr Res. 2006 May;59(5):690-4.

PMID:
16627883
5.

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

Cavicchi C, Donati MA, Funghini S, la Marca G, Malvagia S, Ciani F, Poggi GM, Pasquini E, Zammarchi E, Morrone A.

Clin Genet. 2006 Jan;69(1):72-6.

PMID:
16451139
6.

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.

Hum Mutat. 2006 Jan;27(1):31-43.

PMID:
16281286
7.

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.

Mol Genet Metab. 2005 Apr;84(4):317-25. Epub 2005 Jan 22.

PMID:
15781192
8.
9.

Novel mutations in a Thai patient with methylmalonic acidemia.

Champattanachai V, Ketudat Cairns JR, Shotelersuk V, Keeratichamroen S, Sawangareetrakul P, Srisomsap C, Kaewpaluek V, Svasti J.

Mol Genet Metab. 2003 Aug;79(4):300-2.

PMID:
12948746
10.

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J.

Eur J Hum Genet. 2001 Aug;9(8):577-82.

11.

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON.

Mol Genet Metab. 2001 May;73(1):107-10.

PMID:
11350191
12.

Successful pregnancy in severe methylmalonic acidaemia.

Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, Sansaricq C.

J Inherit Metab Dis. 1999 Oct;22(7):788-94.

PMID:
10518278
13.

Renal transplantation in a patient with methylmalonic acidaemia.

Van Calcar SC, Harding CO, Lyne P, Hogan K, Banerjee R, Sollinger H, Rieselbach RE, Wolff JA.

J Inherit Metab Dis. 1998 Oct;21(7):729-37.

PMID:
9819702
14.

Seven novel mutations in mut methylmalonic aciduria.

Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.

Hum Mutat. 1998;11(4):270-4.

PMID:
9554742
16.

Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

Ledley FD, Rosenblatt DS.

Hum Mutat. 1997;9(1):1-6. Review.

PMID:
8990001
17.

Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.

Drennan CL, Matthews RG, Rosenblatt DS, Ledley FD, Fenton WA, Ludwig ML.

Proc Natl Acad Sci U S A. 1996 May 28;93(11):5550-5.

18.
19.

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E.

J Clin Invest. 1994 Jul;94(1):418-21.

20.
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk