✦ LIBER ✦

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

✍ Scribed by Bwee Tien Poll-The; Jutta Gärtner

Book ID: 116271108
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 972 KB
Volume: 1822
Category: Article
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2012.03.011

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and biochemical characteristics

Clinical and biochemical characteristics of peroxisomal disorders: an update

✍ R. J. A. Wanders; P. G. Barth; R. B. H. Schutgens; J. M. Tager 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 460 KB

Peroxisomal disorders: Clinical and bioc

Peroxisomal disorders: Clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families

✍ Steinberg, Steven J.; El�ioglu, Nursel; Slade, Christina M.; Sankaralingam, Arun 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB 👁 2 views

We describe the main clinical and biochemical findings in 15 patients with peroxisomal disorders, together with the results of 11 prenatal investigations for Zellweger syndrome. The initial laboratory diagnosis depended in most cases on demonstration of elevated very long chain fatty acids in plasma

Prenatal diagnosis of peroxisomal disord

Prenatal diagnosis of peroxisomal disorders Biochemical and immunocytochemical studies on peroxisomes in human amniocytes

✍ Suzuki, Yasuyuki; Shimozawa, Nobuyuki; Kawabata, Ichiro; Yajima, Shigehiro; Inou 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 501 KB

Clinical spectrum and diagnosis of mitoc

Clinical spectrum and diagnosis of mitochondrial disorders

✍ Munnich, Arnold ;Rustin, Pierre 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 263 KB 👁 2 views

Diagnosis of mitochondrial disorders: Cl

Diagnosis of mitochondrial disorders: Clinical and biochemical approach

✍ D.R. Thorburn; J. Smeitink 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 46 KB

Clinical, biochemical, and mutational sp

Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency

✍ Sacha Ferdinandusse; Simone Denis; Eveline M. Hogenhout; Janet Koster; Carlo W.T 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 888 KB

Peroxisomal acyl-coenzyme A (acyl-CoA) oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (SCOX). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Although s