✦ LIBER ✦

β-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems

✍ Scribed by J. Yaplito-Lee; J. Pitt; J. Meijer; L. Zoetekouw; R. Meinsma; A.B.P. van Kuilenburg

Book ID: 116988163
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 117 KB
Volume: 93
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2007.09.009

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Urogenital Anomalies in Men with Congeni

Urogenital Anomalies in Men with Congenital Absence of the Vas Deferens

✍ Schlegel, Peter N.; Shin, David; Goldstein, Marc 📂 Article 📅 1996 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 715 KB

The prevalence of iron deficiency among

The prevalence of iron deficiency among patients presenting with colorectal cancer

✍ A. L Beale; M. D. Penney; M. C. Allison 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB

Detection of β-ureidopropionase deficien

Detection of β-ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level

✍ A.B.P. Van Kuilenburg; H. Van Lenthe; B. Assmann; G. Göhlich-Ratmann; G.F. Hoffm 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 90 KB

Increased risk of colorectal cancer asso

Increased risk of colorectal cancer associated with congenital anomalies of the urinary tract

✍ Mr. J. D. Atwell; I. Taylor; M. Cruddas 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 315 KB 👁 2 views

## Abstract Two young mothers of children presenting with congenital anomalies of the urinary tract underwent colectomy for carcinoma or adenomatosis of the colon. In another family with urinary anomalies, the maternal grandmother had died from carcinoma of the colon at 36 years of age. This previo

Clinical, biochemical and molecular anal

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

✍ Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutge 📂 Article 📅 2014 🏛 Springer 🌐 English ⚖ 618 KB

Primary and Secondary Prophylaxis of Imp

Primary and Secondary Prophylaxis of Impaired Mental Development in Children with Congenital Anomalies of the Circulatory System

✍ E. A. Ostapets 📂 Article 📅 2013 🏛 Springer US 🌐 English ⚖ 79 KB