✦ LIBER ✦

Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome

✍ Scribed by G. Zahle Østergaard; H. Nielsen; B. Friis

Publisher: Springer
Year: 1992
Tongue: English
Weight: 738 KB
Volume: 151
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf02072232

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel 7-DHCR mutation in a child with Sm

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

✍ Patrono, C.; Rizzo, C.; Tessa, A.; Giannotti, A.; Borrelli, P.; Carrozzo, R.; Pi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the

Defective monocyte oxidative metabolism

Defective monocyte oxidative metabolism in a child with non-pneumonic legionellosis

✍ C. Rechnitzer; I. Koch; N. Clausen; H. Nielsen 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 357 KB

Fatal adenovirus type 7b infection in a

Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome

✍ A. Beby-Defaux; L. Maille; S. Chabot; A. Nassimi; D. Oriot; G. Agius 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB

## Abstract Adenovirus type 7 causes worldwide respiratory tract infections, mainly in children. Severe systemic infections can occur, especially in immunocompromised patients and in patients with underlying chronic diseases. This report describes the first case of a fatal disseminated adenovirus t

Selective antibody immune deficiency in

Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome

✍ D. Babovic-Vuksanovic; R. M. Jacobson; N. M. Lindor; C. R. Weiler 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 128 KB

Adrenal insufficiency and hypertension i

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome

✍ Nowaczyk, Ma?gorzata J.M. ;Siu, Victoria M. ;Krakowiak, Patrycja A. ;Porter, For 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 2 views

Eye findings in 8 children and a spontan

Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome

✍ Atchaneeyasakul, La-Ongsri; Linck, Leesa M.; Connor, William E.; Weleber, Richar 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

We evaluate the ophthalmologic findings in 8 children with RSH/Smith-Lemli-Opitz syndrome (SLOS) and document abnormal concentrations of cholesterol and cholesterol precursors in the ocular tissues in a case of SLOS. The most common ophthalmologic finding was blepharoptosis, which was found in 6 of