✦ LIBER ✦

Cytochromecoxidase deficiency in three patients with Leigh's disease

✍ Scribed by M. Di Rocco; E. Veneselli; M. O. Ciccone; A. Taccone; M. Stroppiano; F. Cottafava

Publisher: Springer
Year: 1988
Tongue: English
Weight: 706 KB
Volume: 11
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01804232

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Immunochemical study in three patients w

Immunochemical study in three patients with cytochromecoxidase deficiency presenting leigh's encephalomyelopathy

✍ S. Miyabayashi; T. Ito; D. Abukawa; K. Narisawa; K. Tada; M. Tanaka; T. Ozawa; M 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 414 KB

Ethylmalonic aciduria associated with pr

Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromecoxidase deficiency

✍ W. Lehnert; W. Ruitenbeek 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 206 KB

MR imaging in a patient with Leigh's dis

MR imaging in a patient with Leigh's disease (subacute necrotizing encephalomyelopathy)

✍ S. V. Manzi; K. H. Hager; F. R. Murtagh; J. G. Mazalewski 📂 Article 📅 1990 🏛 Springer-Verlag 🌐 English ⚖ 507 KB

Immune deficiency in family members of p

Immune deficiency in family members of patients with Hodgkin's disease

✍ Karl Merk; Magnus Björkholm; Ove Tullgren; Håkan Mellstedt; Göran Holm 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 535 KB

Muscle cytochromecoxidase deficiency in

Muscle cytochromecoxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

✍ B. Garavaglia; V. Colamaria; F. Carrara; P. Tonin; M. Rimoldi; G. Uziel 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 198 KB

Various classes of mutations in patients

Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)

✍ Dr. Nina Raben; Dr. Jeffrey B. Sherman; Dr. Elizabeth Adams; Dr. Hiromu Nakajima 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 389 KB

Muscle phosphofructokinase (PFK-M) deficiency (glycogenosis type VII, Tarui's disease) is characterized by intolerance to vigorous exercise, often accompanied by myoglobinuria. The disease is inherited as an autosomal recessive trait. The clinical manifestations are similar to those in myophosphoryl