✦ LIBER ✦

KBS-DIAMET: database and expert system for diagnosis and treatment of patients with inborn errors of metabolism

✍ Scribed by U. Mischke; G. Fraudendienst-Egger; P. Matthis; P. Gao; F. K. Trefz

Publisher: Springer
Year: 1995
Tongue: English
Weight: 159 KB
Volume: 18
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf00711773

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Sensitive detection of amino acids in hu

Sensitive detection of amino acids in human serum and dried blood disc of 3 mm diameter for diagnosis of inborn errors of metabolism

✍ Yoshihiko Watanabe; Kazuhiro Imai 📂 Article 📅 1984 🏛 Elsevier Science ⚖ 470 KB

Phenylketonuria as a model for protein m

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

✍ Ania C. Muntau; Søren W. Gersting 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 520 KB

Identification of the molecular defect i

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

✍ Jeannette Gootjes; Frank Schmohl; Petra A.W. Mooijer; Conny Dekker; Hanna Mandel 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 428 KB

## Communicated by Johannes Zschocke The peroxisome biogenesis disorders (PBDs), which comprise Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD), represent a spectrum of disease severity, with ZS being the most severe, and IRD the least severe disorder. Th