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Journal Article
Experimental Eye Research, ISSN 0014-4835, 09/2019, Volume 186, p. 107713
Zellweger Spectrum Disorder (ZSD) is an autosomal recessive disease caused by mutations in any one of 13 genes whose protein products are required for... 
Retinal degeneration | Zellweger spectrum disorder | Peroxisome disorders | PEX1 | Pex1 mouse model | MITOCHONDRIAL | B-WAVE | LIGHT-INDUCED RETINOPATHY | HEIMLER SYNDROME | MUDPUPPY RETINA | IDENTIFICATION | CLINICAL-MANIFESTATIONS | OPHTHALMOLOGY | PEROXISOME BIOGENESIS DISORDERS | MUTATIONS
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 09/2019, Volume 21, Issue 9, pp. 1969 - 1976
Purpose: We aimed to estimate the carrier frequency of Zellweger spectrum disorder (ZSD), a rare autosomal recessive disease, and the associated disease... 
DIAGNOSIS | SIFT | PATHOGENICITY | VARIANTS | X-linked adrenoleukodystrophy | GENETICS & HEREDITY | carrier frequency | Zellweger spectrum disorder | PEROXISOME BIOGENESIS DISORDERS | peroxisome biogenesis | incidence rate
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 2019, Volume 42, Issue 5, pp. 955 - 965
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 08/2019, Volume 65, pp. 256 - 260
X-linked adrenoleukodystrophy (ALD) and Zellweger spectrum disorder (ZSD) are peroxisomal diseases characterized by accumulation of very long chain fatty acids... 
PEX16 | Magnetic resonance imaging | very long chain fatty acids | X-linked adrenoleukodystrophy | Peroxisomal disease | Zellweger spectrum disorder | ABCD1 | MRI | CLINICAL NEUROLOGY | Fatty acids | Paralysis, Spastic | Genetic aspects
Journal Article