Snyderman SE - Search Results

1

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Edelmann L, et al. Among authors: snyderman se. Am J Hum Genet. 2001 Oct;69(4):863-8. doi: 10.1086/323677. Epub 2001 Aug 16. Am J Hum Genet. 2001. PMID: 11509994 Free PMC article.

2

Newborn screening for maple syrup urine disease.

Snyderman SE, Sansaricq C. Snyderman SE, et al. J Pediatr. 1985 Aug;107(2):259-61. doi: 10.1016/s0022-3476(85)80142-6. J Pediatr. 1985. PMID: 4020551 No abstract available.

3

Newborn screening for homocystinuria.

Snyderman SE, Sansaricq C. Snyderman SE, et al. Early Hum Dev. 1997 Apr 25;48(1-2):203-7. doi: 10.1016/s0378-3782(96)01860-9. Early Hum Dev. 1997. PMID: 9131320 Free article.

4

Cerebral glucose metabolism in adults with early treated classic phenylketonuria.

Wasserstein MP, Snyderman SE, Sansaricq C, Buchsbaum MS. Wasserstein MP, et al. Among authors: snyderman se. Mol Genet Metab. 2006 Mar;87(3):272-7. doi: 10.1016/j.ymgme.2005.06.010. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16343970

5

Molecular basis of phenotypic variation in patients with argininemia.

Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I. Uchino T, et al. Among authors: snyderman se. Hum Genet. 1995 Sep;96(3):255-60. doi: 10.1007/BF00210403. Hum Genet. 1995. PMID: 7649538

6

Succinyl-CoA:3-ketoacid CoA-transferase deficiency.

Snyderman SE, Sansaricq C, Middleton B. Snyderman SE, et al. Pediatrics. 1998 Apr;101(4 Pt 1):709-11. doi: 10.1542/peds.101.4.709. Pediatrics. 1998. PMID: 9521962 No abstract available.

7

Successful pregnancy in severe methylmalonic acidaemia.

Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, Sansaricq C. Wasserstein MP, et al. Among authors: snyderman se. J Inherit Metab Dis. 1999 Oct;22(7):788-94. doi: 10.1023/a:1005597722237. J Inherit Metab Dis. 1999. PMID: 10518278

8

Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency.

Topaloglu AK, Sansaricq C, Snyderman SE. Topaloglu AK, et al. Among authors: snyderman se. Pediatr Res. 2001 Jun;49(6):796-8. doi: 10.1203/00006450-200106000-00014. Pediatr Res. 2001. PMID: 11385140

9

Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria.

Levy HL, Lobbregt D, Sansaricq C, Snyderman SE. Levy HL, et al. Among authors: snyderman se. Am J Med Genet. 1992 Nov 1;44(4):439-42. doi: 10.1002/ajmg.1320440411. Am J Med Genet. 1992. PMID: 1442884

10

The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease.

Snyderman SE, Goldstein F, Sansaricq C, Norton PM. Snyderman SE, et al. Pediatr Res. 1984 Sep;18(9):851-3. doi: 10.1203/00006450-198409000-00009. Pediatr Res. 1984. PMID: 6483508

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