✦ LIBER ✦

Peptiduria presumably caused by aminopeptidase-P deficiency. A new inborn error of metabolism

✍ Scribed by N. Blau; A. Niederwieser; D. H. Shmerling

Publisher: Springer
Year: 1988
Tongue: English
Weight: 259 KB
Volume: 11
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01804246

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dihydropyrimidinuria: a new inborn error

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

✍ M. Duran; P. Rovers; P. K. de Bree; C. H. Schreuder; H. Beukenhorst; L. Dorland; 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 274 KB

Dihydropyrimidine dehydrogenase deficien

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

✍ S. K. Wadman; R. Berger; M. Duran; P. K. de Bree; S. A. Stoker-de Vries; F. A. B 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 248 KB

4-Hydroxybutyric aciduria: A new inborn

4-Hydroxybutyric aciduria: A new inborn error of metabolism. II. Biochemical findings

✍ C. Jakobs; J. Kneer; D. Rating; F. Hanefeld; P. Divry; M. Hermier 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 253 KB

4-Hydroxybutyric aciduria: A new inborn

4-Hydroxybutyric aciduria: A new inborn error of metabolism. I. Clinical review

✍ D. Rating; F. Hanefeld; H. Siemes; J. Kneer; C. Jakobs; M. Hermier; P. Divry 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 323 KB

4-Hydroxybutyric aciduria: A new inborn

4-Hydroxybutyric aciduria: A new inborn error of metabolism. III. Enzymology and inheritance

✍ K. M. Gibson; I. Jansen; L. Sweetman; W. L. Nyhan; D. Rating; C. Jakobs; P. Divr 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 206 KB

Neonatal hyperphenylalaninaemia presumab

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency

✍ J. L. Dhondt; P. Guibaud; M. O. Rolland; C. Dorche; S. Andre; G. Forzy; J. M. Ha 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 407 KB

Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopter