✦ LIBER ✦

Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulphatase deficiency

✍ Scribed by A. Tanaka; M. Hirabayashi; M. Ishii; S. Yamaoka; M. Kawamura; M. Nishida; G. Isshiki

Publisher: Springer
Year: 1987
Tongue: English
Weight: 851 KB
Volume: 10
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01800032

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Biochemical variability of arylsulphatas

Biochemical variability of arylsulphatases-A,-B and-C in cultured fibroblasts from patients with multiple sulphatase deficiency

✍ P. L. Chang; N. E. Rosa; S. R. Ballantyne; R. G. Davidson 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 960 KB

Clinical and biochemical studies of pyri

Clinical and biochemical studies of pyridoxine deficiency in patients with neoplastic diseases

✍ S. D. Gailani; J. F. Holland; A. Nussbaum; K. B. Olson 📂 Article 📅 1968 🏛 John Wiley and Sons 🌐 English ⚖ 943 KB

Variant rhizomelic chondrodysplasia punc

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: Clinico-biochemical delineation of a subtype and complementation studies

✍ Barth, Peter G.; Wanders, Ronald J. A.; Schutgens, Ruud B. H.; Staalman, Chris R 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

Rhizomelic chondrodysplasia calcificans punctata (RCDP) is an autosomal recessive peroxisomal disorder which affects phytanic acid oxidation and de novo biosynthesis of plasmalogens in liver and fibroblasts. Peroxisomal thiolase is present in its unprocessed precursor form (44 kDa). We studied a men

Biochemical characteristics of glucose-6

Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants

✍ N. Saha; S. H. Hong; H. A. Wong; K. Jeyaseelan; J. S. H. Tay 📂 Article 📅 1991 🏛 Nature Publishing Group 🌐 English ⚖ 361 KB

Clinical and biochemical presentation of

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

✍ L. J. M. Spaapen; J. A. Bakker; S. B. van der Meer; H. J. Sijstermans; R. A. Ste 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 160 KB

A new case of short-chain acyl-CoA dehyd

A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and1H-NMR spectroscopic studies

✍ C. Battisti; F. Forte; M. Molinelli; S. Funghini; E. Pasquini; M. Tassini; M. T. 📂 Article 📅 2007 🏛 Springer Milan 🌐 English ⚖ 50 KB