✦ LIBER ✦

Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome

✍ Scribed by Eishin Ogawa; Hiroko Kodama

Book ID: 118482503
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 282 KB
Volume: 26
Category: Article
ISSN: 0946-672X
DOI: 10.1016/j.jtemb.2012.04.017

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Metabolic and Molecular Bases of Menkes

Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome

✍ Stephen G. Kaler 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 171 KB

ATP7A gene mutations in 16 patients with

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

✍ Gu, Yan‐Hong ;Kodama, Hiroko ;Murata, Yoshiko ;Mochizuki, Daishi ;Yanagawa, Yuki 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 114 KB 👁 2 views

Distinctive Menkes disease variant with

Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

✍ Proud, Virginia K.; Mussell, Holly G.; Kaler, Stephen G.; Young, Daniel W.; Perc 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 852 KB

To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS). T

A Novel Frameshift Mutation in Exon 23 o

A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

✍ Susan L. Dagenais; Ayla N. Adam; Jeffrey W. Innis; Thomas W. Glover 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 580 KB

Expression of mRNAs for Lysyl Oxidase an

Expression of mRNAs for Lysyl Oxidase and Type III Procollagen in Cultured Fibroblasts from Patients with the Menkes and Occipital Horn Syndromes as Determined by Quantitative Polymerase Chain Reaction

✍ R. Kemppainen; E.-R. Hämäläinen; H. Kuivaniemi; G. Tromp; T. Pihlajaniemi; K.I. 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 119 KB

Variable clinical expression of an ident

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family

✍ Bettina Borm; Lisbeth Birk Møller; Ingrid Hausser; Michael Emeis; Kurt Baerloche 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 584 KB