Kratz LE - Search Results

1

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.

Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS. Kelley RI, et al. Among authors: kratz le. Am J Med Genet. 1999 Mar 19;83(3):213-9. doi: 10.1002/(sici)1096-8628(19990319)83:3<213::aid-ajmg15>3.0.co;2-c. Am J Med Genet. 1999. PMID: 10096601 Free article.

2

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.

Andersson HC, Kratz L, Kelley R. Andersson HC, et al. Am J Med Genet. 2002 Dec 15;113(4):315-9. doi: 10.1002/ajmg.b.10873. Am J Med Genet. 2002. PMID: 12457401

3

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Kelley RI, et al. Among authors: kratz le. Am J Med Genet. 2002 Jun 15;110(2):95-102. doi: 10.1002/ajmg.10510. Am J Med Genet. 2002. PMID: 12116245

4

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Cunniff C, et al. Among authors: kratz le. Am J Med Genet. 1997 Jan 31;68(3):263-9. Am J Med Genet. 1997. PMID: 9024557

5

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

Kratz LE, Kelley RI. Kratz LE, et al. Am J Med Genet. 1999 Feb 19;82(5):376-81. Am J Med Genet. 1999. PMID: 10069707

6

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.

Grange DK, Kratz LE, Braverman NE, Kelley RI. Grange DK, et al. Among authors: kratz le. Am J Med Genet. 2000 Feb 14;90(4):328-35. doi: 10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10710233

7

Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.

Kumada S, Hayashi M, Kenmochi J, Kurosawa S, Shimozawa N, Kratz LE, Kelley RI, Taki K, Okaniwa M. Kumada S, et al. Among authors: kratz le. Am J Med Genet. 2001 Jan 22;98(3):250-5. doi: 10.1002/1096-8628(20010122)98:3<250::aid-ajmg1087>3.0.co;2-y. Am J Med Genet. 2001. PMID: 11169563

8

3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.

Kelley RI, Kratz L. Kelley RI, et al. Pediatr Res. 1995 May;37(5):671-4. doi: 10.1203/00006450-199505000-00020. Pediatr Res. 1995. PMID: 7603789

9

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D. Braverman N, et al. Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357. Nat Genet. 1999. PMID: 10391219 Free article.

10

Abnormalities of cholesterol metabolism in autism spectrum disorders.

Tierney E, Bukelis I, Thompson RE, Ahmed K, Aneja A, Kratz L, Kelley RI. Tierney E, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):666-8. doi: 10.1002/ajmg.b.30368. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16874769 Free PMC article.

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