✦ LIBER ✦

Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency

✍ Scribed by Isabella Giovannoni; Alessandra Terracciano; Fabrizio Gennari; Ezio David; Paola Francalanci; Filippo M. Santorelli

Book ID: 114943967
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 888 KB
Volume: 42
Category: Article
ISSN: 1386-6346
DOI: 10.1111/j.1872-034x.2011.00925.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

263 PATERNAL ISODISOMY FOR CHROMOSOME 2

263 PATERNAL ISODISOMY FOR CHROMOSOME 2 AS CAUSE OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY

✍ I. Giovannoni; A. Terracciano; E. David; P. Francalanci; F. Gennari; F.M. Santor 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 50 KB

Hepatocellular carcinoma in ten children

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

✍ A. S. Knisely; Sandra S. Strautnieks; Yvonne Meier; Bruno Stieger; Jane A. Byrne 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 697 KB

Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational-analysis studies could demonstrate that deficiency of the canalicular bile acid transporter bile salt export pump (BSEP) and mutation in ABCB11, encoding BSEP, underlay progressive fam

Donnai–Barrow syndrome (DBS/FOAR) in a c

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

✍ Sibel Kantarci; Nicola K. Ragge; N. Simon Thomas; David O. Robinson; Kristin M. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 1 views

CO18 RELAPSING FEATURES OF BILE SALT EXP

CO18 RELAPSING FEATURES OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY IN A PATIENT SUCCESSFULLY TRANSPLANTED FOR PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC2)

✍ C. Centenari; M. Fabre; M. Sciveres; E. Jacquemin; G. Maggiore 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 54 KB

1128 RELAPSING FEATURES OF BILE SALT EXP

1128 RELAPSING FEATURES OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY IN TWO PATIENTS SUCCESSFULLY TRANSPLANTED FOR PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC2)

✍ Maggiore, G.; Fabre, M.; Sciveres, M.; Redon, M.J.; Stieger, B.; Davit-Spraul, A 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 49 KB

Maternal 21-hydroxylase deficiency and u

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome

✍ Elizabeth A. Parker; Karine Hovanes; John Germak; Forbes Porter; Deborah P. Merk 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 1 views