✦ LIBER ✦

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

✍ Scribed by Kelley, Richard I. ;Kratz, Lisa E. ;Glaser, Rivka L. ;Netzloff, Michael L. ;Miller Wolf, Linda ;Jabs, Ethylin W.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 103 KB
Volume: 110
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10510

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Undetectable maternal serum uE3 and post

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome

✍ Cragun, Deborah L. ;Trumpy, Sharon K. ;Shackleton, Cedric H.L. ;Kelley, Richard 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 1 views

Abnormal sterol metabolism in patients w

Abnormal sterol metabolism in patients with Conradi-H�nermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

✍ Kelley, Richard I.; Wilcox, William G.; Smith, Moyra; Kratz, Lisa E.; Moser, Ann 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

The term, "chondrodysplasia punctata" (CDP) denotes a pattern of abnormal punctate calcification of dystrophic epiphyseal cartilage and certain other cartilaginous structures, such as the larynx. CDP occurs in a variety of genetic disorders associated with skeletal dwarfism and can also be caused by

Cytogenetic and molecular studies of a f

Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia

✍ Liou, Jui-Der; Ma, Yen-Ying; Gibson, Lisa H.; Su, Hua; Charest, Nancy; Lau, Yun- 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 232 KB 👁 1 views

Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients and the father's Ys appear to be the same and lie

A patient with neurological symptoms and

A patient with neurological symptoms and abnormal leukotriene metabolism: A new defect in leukotriene biosynthesis

✍ Ertan Mayatepek; Stéphanie Badiou; Hélène Bellet; Wolf D. Lehmann 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 79 KB 👁 1 views

Eosinophilia, chloromas and a chromosome

Eosinophilia, chloromas and a chromosome abnormality in a patient with a myeloproliferative syndrome

✍ Leonard Ellman; Denis Hammond; Leonard Atkins 📂 Article 📅 1979 🏛 John Wiley and Sons 🌐 English ⚖ 448 KB 👁 1 views

Abnormal folate metabolism and genetic p

Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect

✍ Al-Gazali, L.I. ;Padmanabhan, R. ;Melnyk, S. ;Yi, P. ;Pogribny, I.P. ;Pogribna, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB 👁 2 views

The association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male c