Skip to main content
مکتبة رقمیه للعلوم الطبيه
Your cart is empty.
Cart
Lists
Your lists
Log in to create your own lists
Log in to your account
Your cookies
Search history
Search the catalog by:
Library catalog
Title
Author
Subject
ISBN
ISSN
Series
Call number
Search the catalog by keyword
Advanced search
Authority search
Tag cloud
Library
Log in to your account
Home
Advanced search
Results of search for 'su:"Refsum Disease"', page 20 of 33
Refine your search
Availability
Limit to records with available items
Authors
Avigan, J
Eldjarn, L
Gibberd, F B
Jakobs, C
Laudat, P
Moser, H W
Poll-The, B T
Poulos, A
Refsum, S
Saudubray, J M
Schutgens, R B
Sharp, P
Sidey, M C
Skjeldal, O H
Steinberg, D
Stokke, O
Suzuki, Y
Try, K
Wanders, R J
Wanders, Ronald J A
Show more
Show less
Topics
Adolescent
Adult
Animals
Child
Fatty Acids
Female
Humans
Infant
Male
Microbodies
Middle Aged
Phytanic Acid
Refsum Disease
blood
complications
diagnosis
enzymology
genetics
metabolism
pathology
Show more
Show less
Languages
Czech
Danish
Dutch
English
Finnish
French
German
Croatian
Hungarian
Italian
Japanese
Norwegian
Polish
Portuguese
Romanian
Russian
Slovak
Spanish
Undetermined
Show more
Show less
Your search returned 655 results.
Sort
First
Previous
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
Next
Last
Sort by:
Relevance
Popularity (most to least)
Popularity (least to most)
Author (A-Z)
Author (Z-A)
Call number (0-9 to A-Z)
Call number (Z-A to 9-0)
Publication/Copyright date: Newest to oldest
Publication/Copyright date: Oldest to newest
Acquisition date: Newest to oldest
Acquisition date: Oldest to newest
Title (A-Z)
Title (Z-A)
Unhighlight
Highlight
Select all
Clear all
Select titles to:
Add to cart
Add to list
New list
Place hold
Results
381.
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?
[electronic resource]
by
Foulon, Veerle
Asselberghs, Stanny
Geens, Wendy
Mannaerts, Guy P
Casteels, Minne
Van Veldhoven, Paul P
Producer:
20040701
In:
Journal of lipid research
vol. 44
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
382.
Variants and mimics of Guillain Barré Syndrome.
[electronic resource]
by
Levin, Kerry H
Producer:
20040716
In:
The neurologist
vol. 10
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
383.
[Cardio-auditory syndromes of genetic origin].
[electronic resource]
by
Pernot, C
Henry, M
Debruille, C
Producer:
19750310
In:
Coeur et medecine interne
vol. 13
Availability:
No items available.
Save to lists
Add to cart
(remove)
384.
The hereditary tapetoretinal degenerations.
[electronic resource]
by
Wybar, K
Producer:
19670415
In:
Proceedings of the Royal Society of Medicine
vol. 60
Availability:
No items available.
Save to lists
Add to cart
(remove)
385.
Peroxisomal disorders: a review.
[electronic resource]
by
Wanders, R J
Schutgens, R B
Barth, P G
Producer:
19951006
In:
Journal of neuropathology and experimental neurology
vol. 54
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
386.
Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.
[electronic resource]
by
Pareyson, D
Producer:
20040820
In:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
vol. 25
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
387.
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
[electronic resource]
by
Zolotov, D
Wagner, S
Kalb, K
Bunia, J
Heibges, A
Klingel, R
Producer:
20120808
In:
Journal of clinical apheresis
vol. 27
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
388.
Adult onset seizures in learning disability.
[electronic resource]
by
Ali, Rehiana
Larner, Andrew J
Producer:
20200717
In:
The journal of the Royal College of Physicians of Edinburgh
vol. 49
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
389.
Peroxisomal disorders: clinical commentary and future prospects.
[electronic resource]
by
Wilson, G N
Holmes, R D
Hajra, A K
Producer:
19881207
In:
American journal of medical genetics
vol. 30
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
390.
Evidence against alpha-hydroxyphytanic acid as an intermediate in the metabolism of phytanic acid.
[electronic resource]
by
Skjeldal, O H
Stokke, O
Producer:
19890309
In:
Scandinavian journal of clinical and laboratory investigation
vol. 48
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
391.
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease.
[electronic resource]
by
Mandel, H
Berant, M
Meiron, D
Aizin, A
Oiknine, J
Brook, J G
Aviram, M
Producer:
19921223
In:
Journal of inherited metabolic disease
vol. 15
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
392.
Complementation analysis of peroxisomal disorders and classical Refsum.
[electronic resource]
by
Poll-The, B T
Skjeldal, O H
Stokke, O
Demaugre, F
Saudubray, J M
Producer:
19900517
In:
Progress in clinical and biological research
vol. 321
Availability:
No items available.
Save to lists
Add to cart
(remove)
393.
Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.
[electronic resource]
by
Wanders, R J
Boltshauser, E
Steinmann, B
Spycher, M A
Schutgens, R B
van den Bosch, H
Tager, J M
Producer:
19901204
In:
Journal of the neurological sciences
vol. 98
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
394.
Refsum's disease (heredopathia atactica polyneuriformis).
[electronic resource]
by
McKusick, V A
Producer:
19750621
In:
Birth defects original article series
vol. 7
Availability:
No items available.
Save to lists
Add to cart
(remove)
395.
Alpha-oxidation as an alternative pathway for the degradation of branched-chain fatty acids in man, and its failure in patients with Refsum's disease.
[electronic resource]
by
Stokke, O
Try, K
Eldjarn, L
Producer:
19680210
In:
Biochimica et biophysica acta
vol. 144
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
396.
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
[electronic resource]
by
Wierzbicki, Anthony S
Lloyd, Matthew D
Schofield, Christopher J
Feher, Michael D
Gibberd, F Brian
Producer:
20020416
In:
Journal of neurochemistry
vol. 80
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
397.
A child with night blindness: preventing serious symptoms of Refsum disease.
[electronic resource]
by
Kohlschütter, Alfried
Santer, René
Lukacs, Zoltan
Altenburg, Christiane
Kemper, Markus J
Rüther, Klaus
Producer:
20120904
In:
Journal of child neurology
vol. 27
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
398.
Metabolism of branched chain fatty acids in peroxisomal disorders.
[electronic resource]
by
Singh, H
Usher, S
Johnson, D
Poulos, A
Producer:
19901212
In:
Journal of inherited metabolic disease
vol. 13
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
399.
Refsum's disease: a disorder of lipid metabolism.
[electronic resource]
by
Rake, M
Saunders, M
Producer:
19670205
In:
Journal of neurology, neurosurgery, and psychiatry
vol. 29
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
400.
[Refsum's disease. Clinical and biochemical evolution under a phytol-free diet. Complementary biochemical studies. Supplement of the 1966 report].
[electronic resource]
by
Wolf, L M
Laudat, P
Chaumont, P
Bonduelle, M
Producer:
19691201
In:
Revue neurologique
vol. 120
Availability:
No items available.
Save to lists
Add to cart
(remove)
First
Previous
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
Next
Last