Results 111 to 120 of about 7,958 (196)

Heredopathia atactica polyneuritiformis (Refsum's disease).

open access: yesHistology and histopathology, 1990
A female patient started to develop deafness and vertigo at the age of 29. In the following years she became atactic and retinitis pigmentosa was discovered. The diagnosis of Refsum's disease was reached on the grounds of the high concentration of phytanic acid in plasma. The patient died 23 years after onset of the first symptoms.
openaire   +2 more sources

Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations. [PDF]

open access: yesAnn Pediatr Endocrinol Metab
Ahangari N   +9 more
europepmc   +1 more source

Concerning the debate about homocysteine, B vitamins, and dementia. [PDF]

open access: yesJ Alzheimers Dis
Miller JW   +5 more
europepmc   +1 more source

Peroxisome Dysfunction and Steatotic Liver Disease. [PDF]

open access: yesInt J Mol Sci
Vinoy N   +3 more
europepmc   +1 more source

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. [PDF]

open access: yesProc Natl Acad Sci U S A, 2008
Ferdinandusse S   +9 more
europepmc   +1 more source

Determinants of fasting and post-methionine homocysteine levels in families predisposed to hyperhomocysteinemia and premature vascular disease [PDF]

open access: yes, 1999
Alders, D.   +7 more
core   +2 more sources

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