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Results of search for 'su:"Refsum Disease"', page 33 of 33
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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
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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
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641.
Recent advances in liver transplantation for metabolic disease.
[electronic resource]
by
Mc Kiernan, P J
Producer:
20180509
In:
Journal of inherited metabolic disease
vol. 40
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642.
Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein.
[electronic resource]
by
Koh, Jeong Tae
Jeong, Byung Chul
Kim, Jae Ha
Ahn, Young Keun
Lee, Hyang Sim
Baik, Yung Hong
Kim, Kyung Keun
Producer:
20040203
In:
Biochemical and biophysical research communications
vol. 313
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643.
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
[electronic resource]
by
Mukherji, M
Chien, W
Kershaw, N J
Clifton, I J
Schofield, C J
Wierzbicki, A S
Lloyd, M D
Producer:
20011204
In:
Human molecular genetics
vol. 10
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644.
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.
[electronic resource]
by
Li, Li-Xi
Liu, Gong-Lu
Liu, Zhi-Jun
Lu, Cong
Wu, Zhi-Ying
Producer:
20180530
In:
Human mutation
vol. 38
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645.
[Neurological diseases of childhood caused by metabolic factors].
[electronic resource]
by
Armbrust-Figueiredo, J
Producer:
19720421
In:
Arquivos de neuro-psiquiatria
vol. 29
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646.
[Macula findings in thesaurismoses].
[electronic resource]
by
François, J
Producer:
19760209
In:
Bericht uber die Zusammenkunft. Deutsche Ophthalmologische Gesellschaft
no. 73
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647.
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
[electronic resource]
by
Slawecki, M L
Dodt, G
Steinberg, S
Moser, A B
Moser, H W
Gould, S J
Producer:
19951002
In:
Journal of cell science
vol. 108 ( Pt 5)
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648.
Metabolic neuropathies and myopathies in infancy and childhood.
[electronic resource]
by
Gamstorp, I
Producer:
19701103
In:
Acta neurologica Scandinavica
vol. 46
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649.
The dietary therapy of inherited metabolic disease.
[electronic resource]
by
Snyderman, S E
Producer:
19760706
In:
Progress in food & nutrition science
vol. 1
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650.
Ocular manifestations of genetic skin disorders.
[electronic resource]
by
Jen, Melinda
Nallasamy, Sudha
Producer:
20161221
In:
Clinics in dermatology
vol. 34
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651.
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment.
[electronic resource]
by
Reiser, Georg
Schönfeld, Peter
Kahlert, Stefan
Producer:
20060525
In:
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
vol. 24
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652.
Hereditary deafness in man.
[electronic resource]
by
Konigsmark, B W
Producer:
19691021
In:
The New England journal of medicine
vol. 281
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653.
The night-blinding disorders.
[electronic resource]
by
Carr, R E
Producer:
19710519
In:
International ophthalmology clinics
vol. 9
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654.
NDRG1 functions in LDL receptor trafficking by regulating endosomal recycling and degradation.
[electronic resource]
by
Pietiäinen, Vilja
Vassilev, Boris
Blom, Tomas
Wang, Wei
Nelson, Jessica
Bittman, Robert
Bäck, Nils
Zelcer, Noam
Ikonen, Elina
Producer:
20140425
In:
Journal of cell science
vol. 126
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655.
Therapeutic apheresis in renal and metabolic diseases.
[electronic resource]
by
Winters, J L
Pineda, A A
McLeod, B C
Grima, K M
Producer:
20000619
In:
Journal of clinical apheresis
vol. 15
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