Elsas LJ 2nd - Search Results

1

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. Girirajan S, et al. Among authors: elsas lj 2nd. J Med Genet. 2005 Nov;42(11):820-8. doi: 10.1136/jmg.2005.031211. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788730 Free PMC article.

2

Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors.

Acosta PB, Yannicelli S, Singh RH, Elsas LJ 2nd, Mofidi S, Steiner RD. Acosta PB, et al. Among authors: elsas lj 2nd. Genet Med. 2004 Mar-Apr;6(2):96-101. doi: 10.1097/01.gim.0000117335.50541.f3. Genet Med. 2004. PMID: 15017332

3

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.

Singh RH, Kruger WD, Wang L, Pasquali M, Elsas LJ 2nd. Singh RH, et al. Among authors: elsas lj 2nd. Genet Med. 2004 Mar-Apr;6(2):90-5. doi: 10.1097/01.gim.0000117334.84388.f4. Genet Med. 2004. PMID: 15017331 Free article.

4

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

Kruger WD, Wang L, Jhee KH, Singh RH, Elsas LJ 2nd. Kruger WD, et al. Among authors: elsas lj 2nd. Hum Mutat. 2003 Dec;22(6):434-41. doi: 10.1002/humu.10290. Hum Mutat. 2003. PMID: 14635102

5

Cessation of enzyme replacement therapy in Gaucher disease.

Grinzaid KA, Geller E, Hanna SL, Elsas LJ 2nd. Grinzaid KA, et al. Among authors: elsas lj 2nd. Genet Med. 2002 Nov-Dec;4(6):427-33. doi: 10.1097/00125817-200211000-00005. Genet Med. 2002. PMID: 12509713

6

Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.

Zhao H, Bailey LA, Elsas LJ 2nd, Grinzaid KA, Grabowski GA. Zhao H, et al. Among authors: elsas lj 2nd. Am J Med Genet A. 2003 Jan 1;116A(1):52-6. doi: 10.1002/ajmg.a.10029. Am J Med Genet A. 2003. PMID: 12476451

7

Clinical objectives in medical genetics for undergraduate medical students. Association of Professors of Human Genetics, Clinical Objectives Task Force.

Friedman JM, Blitzer M, Elsas LJ 2nd, Francke U, Willard HF. Friedman JM, et al. Among authors: elsas lj 2nd. Genet Med. 1998 Nov-Dec;1(1):54-5. doi: 10.1097/00125817-199811000-00013. Genet Med. 1998. PMID: 11261431 Free article. No abstract available.

8

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K. Elsas LJ 2nd, et al. Genet Med. 1998 Nov-Dec;1(1):40-8. doi: 10.1097/00125817-199811000-00009. Genet Med. 1998. PMID: 11261429 Free article. Review.

9

Risk factors for premature ovarian failure in females with galactosemia.

Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ 2nd. Guerrero NV, et al. Among authors: elsas lj 2nd. J Pediatr. 2000 Dec;137(6):833-41. doi: 10.1067/mpd.2000.109148. J Pediatr. 2000. PMID: 11113841 Free article.

10

US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN).

Pass KA, Lane PA, Fernhoff PM, Hinton CF, Panny SR, Parks JS, Pelias MZ, Rhead WJ, Ross SI, Wethers DL, Elsas LJ 2nd. Pass KA, et al. Among authors: elsas lj 2nd. J Pediatr. 2000 Oct;137(4 Suppl):S1-46. doi: 10.1067/mpd.2000.109437. J Pediatr. 2000. PMID: 11044838 No abstract available.

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