✦ LIBER ✦

A new case of isolated sulphite oxidase deficiency with rapid fatal outcome

✍ Scribed by C. Vianey-Liaud; P. Desjacques; J. Gaulme; C. Dorche; P. Vanlieferinghen; P. Dechelotte; P. Divry

Book ID: 105313111
Publisher: Springer
Year: 1988
Tongue: English
Weight: 189 KB
Volume: 11
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01800433

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Infantile isolated sulphite oxidase defi

Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion

✍ J. M. van der Klei-van Moorsel; L. M. E. Smit; M. Brockstedt; C. Jakobs; C. Dorc 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 221 KB

5-Oxoprolinuria (glutathione synthetase

5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

✍ P. Divry; F. Roulaud-Parrot; C. Dorche; M. T. Zabot; B. Contraire; L. Hagenfeldt 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 225 KB

Combined deficiency of xanthine oxidase

Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosis

✍ P. Desjacques; B. Mousson; C. Vianey-Liaud; R. Boulieu; C. Bory; P. Baltassat; P 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 276 KB

A new fatal case of pyridox(am)ine 5′-ph

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

✍ Angeles Ruiz; Judit García-Villoria; Aida Ormazabal; Johannes Zschocke; Miquel F 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 127 KB

Anatomo-pathological findings in a case

Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor

✍ Roth, A. ;Nogues, C. ;Monnet, J. P. ;Ogier, H. ;Saudubray, J. M. 📂 Article 📅 1985 🏛 Springer-Verlag 🌐 English ⚖ 595 KB

Report on a new patient with combined de

Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency

✍ W. Endres; Y. S. Shin; R. Günther; H. Ibel; M. Duran; S. K. Wadman 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 796 KB

A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine com