Thomas JA - Search Results

1

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA. Tsai AC, et al. Among authors: thomas ja. Am J Med Genet A. 2007 Oct 15;143A(20):2430-4. doi: 10.1002/ajmg.a.31932. Am J Med Genet A. 2007. PMID: 17853453

2

D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?

Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C. Struys EA, et al. Among authors: thomas ja. Mol Genet Metab. 2006 May;88(1):53-7. doi: 10.1016/j.ymgme.2005.12.002. Epub 2006 Jan 25. Mol Genet Metab. 2006. PMID: 16442322

3

Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.

Thomas JA, Manchester DK, Prescott KE, Milner R, McGavran L, Cohen MM Jr. Thomas JA, et al. Am J Med Genet. 1996 Apr 24;62(4):372-5. doi: 10.1002/(SICI)1096-8628(19960424)62:4<372::AID-AJMG9>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8723067 Review.

4

Gracile bone dysplasia.

Thomas JA, Rimoin DL, Lachman RS, Wilcox WR. Thomas JA, et al. Am J Med Genet. 1998 Jan 6;75(1):95-100. Am J Med Genet. 1998. PMID: 9450865

5

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.

Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ. Thomas JA, et al. Am J Med Genet A. 2003 Jun 1;119A(2):111-20. doi: 10.1002/ajmg.a.10176. Am J Med Genet A. 2003. PMID: 12749048

6

Growth hormone deficiency associated with methylmalonic acidemia.

Al-Owain M, Freehauf C, Bernstein L, Kappy M, Thomas J. Al-Owain M, et al. J Pediatr Endocrinol Metab. 2004 Feb;17(2):239-43. doi: 10.1515/jpem.2004.17.2.239. J Pediatr Endocrinol Metab. 2004. PMID: 15055362

7

Apparent decreased energy requirements in children with organic acidemias: preliminary observations.

Thomas JA, Bernstein LE, Greene CL, Koeller DM. Thomas JA, et al. J Am Diet Assoc. 2000 Sep;100(9):1074-6. doi: 10.1016/S0002-8223(00)00313-8. J Am Diet Assoc. 2000. PMID: 11019359 No abstract available.

8

Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research.

Wright EL, Van Hove JL, Thomas J; Mountain States Metabolic Consortium. Wright EL, et al. Genet Med. 2010 Dec;12(12 Suppl):S228-41. doi: 10.1097/GIM.0b013e3181fe5d50. Genet Med. 2010. PMID: 21150369 Free article.

9

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Van Hove JL, et al. Among authors: thomas ja. Pediatr Res. 2010 Aug;68(2):159-64. doi: 10.1203/PDR.0b013e3181e5c3a4. Pediatr Res. 2010. PMID: 20453710 Free PMC article.

10

REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.

Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. Kripps KA, et al. Among authors: thomas ja. Mol Genet Metab. 2021 Jul;133(3):231-241. doi: 10.1016/j.ymgme.2021.04.007. Epub 2021 May 7. Mol Genet Metab. 2021. PMID: 33985889 Free article. Review.

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