✦ LIBER ✦

Liver cirrhosis in an infant with Chanarin–Dorfman syndrome caused by a novel splice-site mutation in ABHD5

✍ Scribed by M Cakir; C Bruno; A Cansu; U Cobanoglu; E Erduran

Book ID: 114816591
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 82 KB
Volume: 99
Category: Article
ISSN: 0803-5253
DOI: 10.1111/j.1651-2227.2010.01869.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Chanarin–Dorfman syndrome caused by a no

Chanarin–Dorfman syndrome caused by a novel splice site mutation in ABHD5

✍ S. Badeloe; M. Van Geel; I. Nagtzaam; M.E. Rubio-Gozalbo; R.L. Oei; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

Dorfman-Chanarin syndrome without mental

Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6

✍ Sugiura, Kazumitsu; Suga, Yasushi; Akiyama, Masashi 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 955 KB

Steatohepatitis and liver cirrhosis in C

Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation

✍ E. Cakmak; H. Alagozlu; O. Yonem; H. Ataseven; S. Citli; H. Ozer 📂 Article 📅 2012 🏛 Elsevier 🌐 French ⚖ 608 KB

Acitretin-Responsive Ichthyosis in Chana

Acitretin-Responsive Ichthyosis in Chanarin-Dorfman Syndrome with a Novel Mutation in the ABHD5/CGI-5 8 Gene

✍ Srinivasaraghavan, Rangan; Krishnamurthy, Sriram; Chandar, Rumesh; Cassandrini, 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

Blepharospasm and limb dystonia caused b

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

✍ Hee T. Kim; Mark J. Edwards; Jess Tyson; Niall P. Quinn; Maria Bitner-Glindzicz; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB

## Abstract Mohr‐Tranebjaerg syndrome (MTS) is an X‐linked disorder characterized by childhood‐onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (__DDP1__) gene. We describe a sporadic 42‐year‐old man with

Autosomal Recessive Liver Phosphorylase

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

✍ Ellen A.C.M. van Beurden; Michelle de Graaf; Udo Wendel; Richard Gitzelmann; Ruu 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 168 KB