162 related articles for article (PubMed ID: 8209917)
1. Abnormal bile acids in the Smith-Lemli-Opitz syndrome.
Natowicz MR; Evans JE
Am J Med Genet; 1994 May; 50(4):364-7. PubMed ID: 8209917
[TBL] [Abstract][Full Text] [Related]
2. Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.
Nwokoro NA; Hyde B; Mulvihill JJ
Am J Med Genet; 1994 May; 50(4):375-6. PubMed ID: 8209919
[TBL] [Abstract][Full Text] [Related]
3. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
Irons M; Elias ER; Tint GS; Salen G; Frieden R; Buie TM; Ampola M
Am J Med Genet; 1994 May; 50(4):347-52. PubMed ID: 8209913
[TBL] [Abstract][Full Text] [Related]
4. RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations.
Opitz JM
Am J Med Genet; 1994 May; 50(4):344-6. PubMed ID: 8209912
[TBL] [Abstract][Full Text] [Related]
5. Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993.
Opitz JM; Penchaszadeh VB; Holt MC; Spano LM; Smith VL
Am J Med Genet; 1994 May; 50(4):339-43. PubMed ID: 8209911
[No Abstract] [Full Text] [Related]
6. [New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered].
Starck L; Björkhem I; Lund E; von Döbeln U
Lakartidningen; 1995 Sep; 92(37):3325-6, 3329. PubMed ID: 7674730
[No Abstract] [Full Text] [Related]
7. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
Tint GS; Irons M; Elias ER; Batta AK; Frieden R; Chen TS; Salen G
N Engl J Med; 1994 Jan; 330(2):107-13. PubMed ID: 8259166
[TBL] [Abstract][Full Text] [Related]
8. [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].
Aalfs CM; Hennekam RC; Wanders RJ; Jira PE; Pilon JW; Wijburg FA
Ned Tijdschr Geneeskd; 1996 Jul; 140(28):1463-6. PubMed ID: 8766772
[TBL] [Abstract][Full Text] [Related]
9. RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome.
Acosta PB
Am J Med Genet; 1994 May; 50(4):358-63. PubMed ID: 8209916
[TBL] [Abstract][Full Text] [Related]
10. Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.
Opitz JM; de la Cruz F
Am J Med Genet; 1994 May; 50(4):326-38. PubMed ID: 7632194
[TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
McGaughran JM; Clayton PT; Mills KA; Rimmer S; Moore L; Donnai D
Am J Med Genet; 1995 Apr; 56(3):269-71. PubMed ID: 7778587
[TBL] [Abstract][Full Text] [Related]
12. Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.
Xu G; Salen G; Shefer S; Ness GC; Chen TS; Zhao Z; Tint GS
J Clin Invest; 1995 Jan; 95(1):76-81. PubMed ID: 7814648
[TBL] [Abstract][Full Text] [Related]
13. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
Irons M; Elias ER; Abuelo D; Bull MJ; Greene CL; Johnson VP; Keppen L; Schanen C; Tint GS; Salen G
Am J Med Genet; 1997 Jan; 68(3):311-4. PubMed ID: 9024565
[TBL] [Abstract][Full Text] [Related]
14. 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
Am J Med Genet; 1997 Jan; 68(3):263-9. PubMed ID: 9024557
[TBL] [Abstract][Full Text] [Related]
15. Unusual case of Smith-Lemli-Opitz syndrome "type II".
Seller MJ; Russell J; Tint GS
Am J Med Genet; 1995 Apr; 56(3):265-8. PubMed ID: 7778586
[TBL] [Abstract][Full Text] [Related]
16. Smith-Lemli-Opitz syndrome: treatment with cholesterol and bile acids.
Ullrich K; Koch HG; Meschede D; Flotmann U; Seedorf U
Neuropediatrics; 1996 Apr; 27(2):111-2. PubMed ID: 8737829
[No Abstract] [Full Text] [Related]
17. Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.
Nowaczyk MJ; Whelan DT; Heshka TW; Hill RE
CMAJ; 1999 Jul; 161(2):165-70. PubMed ID: 10439827
[TBL] [Abstract][Full Text] [Related]
18. [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].
GarcíaFuentes E; icioso Recio MV ; del Castillo Acedo Del Olmo E ; atas Jurado MM ; Arana Agüera M ; López López J
An Esp Pediatr; 2000 Nov; 53(5):482-7. PubMed ID: 11141372
[TBL] [Abstract][Full Text] [Related]
19. Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities.
Pierquin G; Peeters P; Roels F; Vamos E; Brucher JM; Tint GS; Honda A; Van Regemorter N
Am J Med Genet; 1995 Apr; 56(3):276-80. PubMed ID: 7778589
[TBL] [Abstract][Full Text] [Related]
20. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis.
Angle B; Tint GS; Yacoub OA; Clark AL
Am J Med Genet; 1998 Dec; 80(4):322-6. PubMed ID: 9856557
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]