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Akademický článek

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Autor: G Salen, S Shefer, A K Batta, G S Tint, G Xu, A Honda, M Irons, E R Elias

Publikováno v: Journal of Lipid Research, Vol 37, Iss 6, Pp 1169-1180 (1996)

The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, def

Externí odkaz: https://doaj.org/article/b665f78ca9a84da79f8cc533271b7db1

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The 3C syndrome: evolution of the phenotype and growth hormone deficiency

Autor: P G, Wheeler, A, Sadeghi-Nejad, E R, Elias

Publikováno v: American journal of medical genetics. 87(1)

The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2188b64479bde64f0e75d65c9fd4d859
https://pubmed.ncbi.nlm.nih.gov/10528249

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Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome

Autor: J G, Borer, M, Kaefer, C E, Barnewolt, E R, Elias, N, Hobbs, A B, Retik, C A, Peters

Publikováno v: The Journal of urology. 161(1)

The Beckwith-Wiedemann syndrome is most commonly characterized by macroglossia and abdominal wall defect(s), and it carries a predisposition to embryonal tumors, including Wilms tumor. We report our experience with the character and incidence of rena

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::06f8feac06748bc6648e9ac09e56eb8d
https://pubmed.ncbi.nlm.nih.gov/10037413

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Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency

Autor: E R, Elias, M, Mobassaleh, A K, Hajra, A B, Moser

Publikováno v: American journal of medical genetics. 80(3)

We describe a 6 1/2-year-old-girl presenting with a unique phenotype and dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency (1.6% of control activity in cultured fibroblasts), a peroxisomal enzyme deficiency which was reported previously

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6b76e9bfbd7a965d2ad9ed314a9ebe1e
https://pubmed.ncbi.nlm.nih.gov/9843043

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Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols

Autor: G S, Tint, D, Abuelo, M, Till, M P, Cordier, A K, Batta, S, Shefer, A, Honda, M, Honda, G, Xu, M, Irons, E R, Elias, G, Salen

Publikováno v: Prenatal diagnosis. 18(7)

The Smith-Lemli-Opitz syndrome, characterized by limb, face and organ abnormalities, and mental retardation, is caused by an inherited block in the step of cholesterol biosynthesis in which the delta 7 double bond of 7-dehydrocholesterol is reduced.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e5e033b29f93529afeac9b7af5d41b33
https://pubmed.ncbi.nlm.nih.gov/9706645

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New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia

Autor: P F, Giampietro, A D, Auerbach, E R, Elias, A, Gutman, N J, Zellers, J G, Davis

Publikováno v: American journal of medical genetics. 78(1)

We describe four cases with several findings of Fanconi anemia (FA), but without hypersensitivity to DNA cross-linking that is the distinguishing characteristic of FA. Two of the cases are male and female sibs of Hispanic origin, age 6 years and 11 m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::19681416af90e425d6bf6eb5e9cdb972
https://pubmed.ncbi.nlm.nih.gov/9637428

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Skeletal anomalies and deformities in patients with deletions of 22q11

Autor: J E, Ming, D M, McDonald-McGinn, T E, Megerian, D A, Driscoll, E R, Elias, B M, Russell, M, Irons, B S, Emanuel, R I, Markowitz, E H, Zackai

Publikováno v: American journal of medical genetics. 72(2)

Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5fc29b57c0a57ee58f1963c120626438
https://pubmed.ncbi.nlm.nih.gov/9382145

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Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial

Autor: M, Irons, E R, Elias, D, Abuelo, M J, Bull, C L, Greene, V P, Johnson, L, Keppen, C, Schanen, G S, Tint, G, Salen

Publikováno v: American journal of medical genetics. 68(3)

Patients with the RSH or Smith-Lemli-Optiz syndrome (SLOS) have an inborn error of cholesterol biosynthesis which results in a deficiency of cholesterol and an elevation of the cholesterol precursor, 7-dehydrocholesterol. A treatment protocol consist

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::41129743b46c7787412b3c828ec4f681
https://pubmed.ncbi.nlm.nih.gov/9024565

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Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Autor: E R, Elias, M B, Irons, A D, Hurley, G S, Tint, G, Salen

Publikováno v: American journal of medical genetics. 68(3)

We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-"Smith-Lemli-Opitz" syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6fdaf2023af9294d531ecd63d28fa35e
https://pubmed.ncbi.nlm.nih.gov/9714443

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