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2. Diagnosis of Smith-Lemli-Opitz syndrome. Seedorf U; Walter M; Assmann G N Engl J Med; 1994 Jun; 330(23):1686-7. PubMed ID: 8177282 [No Abstract] [Full Text] [Related]
3. Smith-Lemli-Opitz syndrome: the changing phenotype with age. de Die-Smulders C; Fryns JP Genet Couns; 1992; 3(2):77-82. PubMed ID: 1642814 [TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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]
6. 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]
14. [Smith-Lemli-Opitz syndrome. Case report and differential diagnosis]. Domenici R; Fiorini V; Giorgi F Minerva Pediatr; 1982 Sep; 34(17):709-14. PubMed ID: 6292682 [No Abstract] [Full Text] [Related]
15. 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]
16. 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]
17. [Discussion contribution to the article of E. Seemanová and M. Vorísková "Smith-Lemli-Opitz syndrome in the infant" (Cs. Pediat. 29, 1974, 9 p. 504-6]. Srsen S Cesk Pediatr; 1975 Jun; 30(6):306-8. PubMed ID: 1157187 [No Abstract] [Full Text] [Related]
18. [The Smith-Lemli-Opitz syndrome in a 2-months-old boy]. Jüttnerová V; Balícek P Sb Ved Pr Lek Fak Karlovy Univerzity Hradci Kralove Suppl; 1977; 20(4):473-7. PubMed ID: 306676 [No Abstract] [Full Text] [Related]