✦ LIBER ✦

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

✍ Scribed by R. B. H. Schutgens; R. J. A. Wanders; C. Jakobs; M. Arslan-Kirchner; K. Miller; P. Wieacker; D. Hunnemann; P. Hurter; M. Schutz

Publisher: Springer
Year: 1994
Tongue: English
Weight: 208 KB
Volume: 17
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf00711818

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Study of peroxisomal proteins in patient

Study of peroxisomal proteins in patients with zellweger syndrome

✍ J. Gärtner; A. Balfe; W. W. Chen; H. W. Moser 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 528 KB

Pre- and postnatal diagnosis of the cere

Pre- and postnatal diagnosis of the cerebrohepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence of absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts

✍ R. J. A. Wanders; G. Schrakamp; H. van den Bosch; J. M. Tager; H. W. Moser; A. E 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 254 KB

A common PEX1 frameshift mutation in pat

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

✍ M.A. Maxwell; P.V. Nelson; S.J. Chin; B.C. Paton; W.F. Carey; D.I. Crane 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 236 KB

Induction of DNA polymerase α in senesce

Induction of DNA polymerase α in senescent cultures of normal and Werner's syndrome cultured skin fibroblasts

✍ W. R. Pendergrass; A. C. Saulewicz; D. Salk; T. Norwood 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 639 KB

DNA polymerase alpha activity was determined following serum stimulation of early and late passages of human diploid fibroblast-like (HDFL) cultures derived from apparently normal donors (two strains) and from a patient with Werner's syndrome (one strain). Induction of this enzyme was observed in bo

A prenatal test for the cerebro-hepato-r

A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells

✍ R. J. A. Wanders; G. Schrakamp; H. Bosch; J. M. Tager; R. B. H. Schutgens 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 365 KB

A retarded rate of DNA replication and n

A retarded rate of DNA replication and normal level of DNA repair in Werner's syndrome fibroblasts in culture

✍ Yoshisada Fujiwara; Toshiaki Higashikawa; Mariko Tatsumi 📂 Article 📅 1977 🏛 John Wiley and Sons 🌐 English ⚖ 685 KB

## Abstract We investigated the cloning efficiency, DNA repair, and the rate of DNA replication in the skin fibroblasts from patients with Werner's syndrome (WS) of an autosomal recessive premature aging disease. Five WS strains exhibited normal levels of sensitivity toward X‐ray and UV killings an