Tuchman M - Search Results

1

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M. McCullough BA, et al. Among authors: tuchman m. Am J Med Genet. 2000 Aug 14;93(4):313-9. doi: 10.1002/1096-8628(20000814)93:4<313::aid-ajmg11>3.0.co;2-m. Am J Med Genet. 2000. PMID: 10946359

2

The molecular basis of ornithine transcarbamylase deficiency.

Tuchman M, McCullough BA, Yudkoff M. Tuchman M, et al. Eur J Pediatr. 2000 Dec;159 Suppl 3:S196-8. doi: 10.1007/pl00014402. Eur J Pediatr. 2000. PMID: 11216899

3

Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.

Tuchman M, Yudkoff M. Tuchman M, et al. Mol Genet Metab. 1999 Jan;66(1):10-5. doi: 10.1006/mgme.1998.2783. Mol Genet Metab. 1999. PMID: 9973542

4

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M; Urea Cycle Disorders Consortium. Gropman AL, et al. Among authors: tuchman m. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. doi: 10.1016/j.ymgme.2008.06.003. Epub 2008 Jul 26. Mol Genet Metab. 2008. PMID: 18662894 Free PMC article.

5

A syndrome of congenital hyperinsulinism and hyperammonemia.

Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS. Weinzimer SA, et al. Among authors: tuchman m. J Pediatr. 1997 Apr;130(4):661-4. doi: 10.1016/s0022-3476(97)70256-7. J Pediatr. 1997. PMID: 9108870

6

A longitudinal study of urea cycle disorders.

Batshaw ML, Tuchman M, Summar M, Seminara J; Members of the Urea Cycle Disorders Consortium. Batshaw ML, et al. Among authors: tuchman m. Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30. doi: 10.1016/j.ymgme.2014.08.001. Epub 2014 Aug 10. Mol Genet Metab. 2014. PMID: 25135652 Free PMC article. Review.

7

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.

Ahrens MJ, Berry SA, Whitley CB, Markowitz DJ, Plante RJ, Tuchman M. Ahrens MJ, et al. Among authors: tuchman m. Am J Med Genet. 1996 Dec 18;66(3):311-5. doi: 10.1002/(SICI)1096-8628(19961218)66:3<311::AID-AJMG14>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8985493

8

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

Bowling F, McGown I, McGill J, Cowley D, Tuchman M. Bowling F, et al. Among authors: tuchman m. Am J Med Genet. 1999 Aug 27;85(5):452-4. doi: 10.1002/(sici)1096-8628(19990827)85:5<452::aid-ajmg4>3.0.co;2-4. Am J Med Genet. 1999. PMID: 10405441

9

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.

Tuchman M, Matsuda I, Munnich A, Malcolm S, Strautnieks S, Briede T. Tuchman M, et al. Am J Med Genet. 1995 Jan 2;55(1):67-70. doi: 10.1002/ajmg.1320550118. Am J Med Genet. 1995. PMID: 7702100

10

Alternative pathway therapy for urea cycle disorders: twenty years later.

Batshaw ML, MacArthur RB, Tuchman M. Batshaw ML, et al. Among authors: tuchman m. J Pediatr. 2001 Jan;138(1 Suppl):S46-54; discussion S54-5. doi: 10.1067/mpd.2001.111836. J Pediatr. 2001. PMID: 11148549 Review.

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