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Refsum s disease
LE WE PMID CA
Refsum s disease3213Refsum Erkrankung

17 beta hydroxysteroid dehydrogenase

ABCD1

ABCD2

ABCD3 GCP60 PAP7 GOCAP1 GOLPH1

ACAA1 Acetyl CoA acyltransferase1

ACAD11 Acyl CoA dehydrogenase11

ACNAT1 Acyl CoA amino acid N acyltransferase

ACOT12 Acyl CoA thioesterase12

ACOT2 Acyl CoA thioesterase2

ACOT4 Acyl CoA thioesterase4

ACOT6 Acyl CoA thioesterase6

ACOT8 Acyl CoA thioesterase8

ACOX1 Acyl CoA oxidase1a 1b

ACOX2 Acyl CoA oxidase2

ACOX3 Acyl CoA oxidase3

ACOXI

ACOXL Acyl CoA oxidase like

ACSL1 Acyl CoA synthetase long chain1

ACSL4 Acyl CoA synthetase long chain4

Adrenoleukodystrophy pseudoneonatal ACOX1 deficiency

Adrenoleukodystrophy X linked

Adrenoleukodystrophy

Adrenomyeloneuropathy

ALDH3A2 Aldehyde dehydrogenase3A2

alpha Oxidation

AMACR

BAAT

beta oxidation

CAT Catalase

Cholic acid

CRAT Carnitine acetyltransferase

CROT Carnitine O octanoyltransferase

D bifunctional protein deficiency MFP2 deficiency SCPx deficiency

DECR2 2 4 Dienoyl CoA reductase 2 peroxisomal

DHRS4 Dehydrogenase reductase SDR family 4

DNML1

ECH1 Enoyl CoA hydratase 1 peroxisomal

EHHADH Enoyl CoA hydratase 3 hydroxyacyl CoA dehydrogenase

FAR1 Fatty acyl CoA reductase1

FAR2 Fatty acyl CoA reductase2

Fatty acids (oxidation)

HACL1 2 Hydroxyacyl CoA lyase 1

HAO2 Hydroxyacid oxidase 2 long chain

HSD17B4

HSDL2 Hydroxysteroid dehydrogenase like2

Hypercholanemia familial

Ichthyosis prematurity syndrome FATP4 deficiency ACSVL5 deficiency

IDH1 Isocitrate dehydrogenase1 NADP soluble

MFP1

NUDT12 Nudix type motif12

NUDT7 Nudix type motif 7

OMIM p603850

PECI Peroxisomal d3 d2 enoyl CoA isomerase

Peroxisomes

PEX1

PEX10

PEX12

PEX13

PEX14

PEX16

PEX19

PEX2

PEX26

PEX3

PEX5

PEX6

PHYH

Phytanic acid

Pristanic acid

PTS1

PTS2

Racemase deficiency

Refsum s disease

Rhizomelic chondrodysplasia punctata

SCP2

SLC27A2

SLC27A4 FATP4

TYSND1

Zellweger s syndrome

2001  
1
2002  
2
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
[11948235] J Neurochem 80(5): 727-35 (2002)
2010  
3
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.
[20558530] J Lipid Res 51(10): 2863-95 (2010)

Downloaded from http://www.kidney.de - The Database of Free Medical Reviews - The Metatextbook of Medicine - Ossip Groth

All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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