Sansaricq C - Search Results

1

Mosaic trisomy 14 with hepatic involvement.

Iglesias A, McCurdy LD, Glass IA, Cotter PD, Illueca M, Perenyi A, Sansaricq C. Iglesias A, et al. Among authors: sansaricq c. Ann Genet. 1997;40(2):104-8. Ann Genet. 1997. PMID: 9259957

2

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: sansaricq c. 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.

3

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: sansaricq c. Am J Med Genet. 1992 Nov 1;44(4):439-42. doi: 10.1002/ajmg.1320440411. Am J Med Genet. 1992. PMID: 1442884

4

Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.

Topaloglu AK, Sansaricq C, Fox JE, Bale AE, Tuchman M, Desnick RJ. Topaloglu AK, et al. Among authors: sansaricq c. J Inherit Metab Dis. 1999 Feb;22(1):82-3. doi: 10.1023/a:1005411601985. J Inherit Metab Dis. 1999. PMID: 10070622 No abstract available.

5

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

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

6

Successful pregnancy in severe methylmalonic acidaemia.

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

7

Pathologic quiz case: hepatosplenomegaly in an infant with hypotonia and coarse facial features. Gangliosidosis type 1.

Bu-Ghanim M, Sansaricq C, Gordon R, Morotti RA. Bu-Ghanim M, et al. Among authors: sansaricq c. Arch Pathol Lab Med. 2004 Nov;128(11):1297-8. doi: 10.5858/2004-128-1297-PQCHIA. Arch Pathol Lab Med. 2004. PMID: 15504069 Free article. No abstract available.

8

Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.

Mc Guire PJ, Lim-Melia E, Diaz GA, Raymond K, Larkin A, Wasserstein MP, Sansaricq C. Mc Guire PJ, et al. Among authors: sansaricq c. Mol Genet Metab. 2008 Jan;93(1):22-9. doi: 10.1016/j.ymgme.2007.08.119. Epub 2007 Oct 26. Mol Genet Metab. 2008. PMID: 17964841 Free PMC article. Review.

9

Cerebral glucose metabolism in adults with early treated classic phenylketonuria.

Wasserstein MP, Snyderman SE, Sansaricq C, Buchsbaum MS. Wasserstein MP, et al. Among authors: sansaricq c. 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

10

Plasma and cerebrospinal fluid amino acid concentrations in phenylketonuria during the newborn period.

Snyderman SE, Sansaricq C, Norton PM, Castro JV. Snyderman SE, et al. Among authors: sansaricq c. J Pediatr. 1981 Jul;99(1):63-7. doi: 10.1016/s0022-3476(81)80958-4. J Pediatr. 1981. PMID: 6788920

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