Baumgartner, M R

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. [electronic resource] - Neurology Nov 1998 - 1427-32 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0028-3878

10.1212/wnl.51.5.1427 doi


Bile Acids and Salts--blood
Cells, Cultured
Diagnosis, Differential
Erythrocytes--metabolism
Fatal Outcome
Fatty Acids, Nonesterified--blood
Female
Fibroblasts--metabolism
Humans
Infant
Intelligence
Liver--metabolism
Microbodies--metabolism
Muscle, Skeletal--pathology
Pipecolic Acids--blood
Spinal Muscular Atrophies of Childhood--diagnosis
Zellweger Syndrome--diagnosis