Lysosomes, peroxisomes and mitochondria: function and disorder.

LE Becker - AJNR: American Journal of Neuroradiology, 1992 - ncbi.nlm.nih.gov
609 disorders require further biochemical clarification. Neonatal ALD and Zellweger
syndrome are examples of well-defined diseases produced by peroxisomal enzyme defects …

[PDF][PDF] Disorders of lysosomes, peroxisomes, and mitochondria.

BE Kendall - AJNR: American Journal of Neuroradiology, 1992 - Am Soc Neuroradiology
Most inherited metabolic diseases affecting the nervous system are due to defective or
deficient enzymes within lysosomes, peroxisomes, or mitochondria, but some are still of …

The MR spectrum of peroxisomal disorders

MS Van der Knaap, J Valk - Neuroradiology, 1991 - Springer
In the last decade an increasing number of peroxisomal disorders has been recognized.
Almost all peroxisomal disorders affect the central nervous system. Many of them lead to …

Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders

H Bruhn, B Kruse, GC Korenke… - Journal of computer …, 1992 - journals.lww.com
Noninvasive studies of cerebral metabolism were performed with use of localized proton MR
spectroscopy (MRS) in both healthy controls (n= 4, age 6 weeks to 2 years) and infants (n …

[CITATION][C] The cerebro‐hepato‐renal (Zellweger) syndrome and other peroxisomal disorders

H Zellweger - Developmental Medicine & Child Neurology, 1987 - Wiley Online Library
It has been less than 50 years since the wider application of electron-microscopy in the
biological sciences began, and only 25 years since biological chemistry, notably enzyme …

MRI as diagnostic tool in early-onset peroxisomal disorders

MS Van der Knaap, E Wassmer, NI Wolf, P Ferreira… - Neurology, 2012 - AAN Enterprises
Objective: Peroxisomal blood tests are generally considered to be conclusive. We observed
several patients with a clinical and MRI phenotype suggestive of an infantile onset …

[HTML][HTML] Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

BT Poll-The, J Gärtner - Biochimica et Biophysica Acta (BBA)-Molecular …, 2012 - Elsevier
Peroxisomal disorders are an important group of neurometabolic diseases. The clinical
presentation is varied in terms of age of onset, severity, and different neurological symptoms …

Peroxisomal disorders: a review

RJA Wanders, RBH Schutgens… - … of Neuropathology & …, 1995 - academic.oup.com
The peroxisomal disorders represent a group of inherited diseases in man in which there is
an impairment in one or more peroxisomal functions. The disorders known up to now are …

Peroxisomal disorders

HW Moser - J Pediatr, 1986 - cnjournals.com
The concept that there are human disease states that are associated with abnormal
peroxisomal function is of recent origin. This is due in part to the relatively recent discovery …

Peroxisomal disorders in neurology

RJA Wanders, HSA Heymans, RBH Schutgens… - Journal of the …, 1988 - Elsevier
Although peroxisomes were initially believed to play only a minor role in mammalian
metabolism, it is now clear that they catalyse essential reactions in a number of different …