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Annals of neurology, ISSN 0364-5134, 2006, Volume 59, Issue 1, pp. 92 - 104
Journal Article
Annals of Indian Academy of Neurology, ISSN 0972-2327, 01/2019, Volume 22, Issue 1, pp. 119 - 121
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 12/2008, Volume 6, Issue 4, pp. 357 - 360
Abstract Deficiency of D-bifunctional protein causes a severe, Zellweger-like phenotype. Different mutations were found in humans causing the total or partial... 
Case Report | D-bifunctional protein | Novel mutation | Pregnancy | Enzymes | Medical imaging | Patients | Metabolic disorders
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e53688
Molecular basis of D-bifunctional protein (D-BP) deficiency was studied with wild type and five disease-causing variants of 3R-hydroxyacyl-CoA dehydrogenase... 
PEROXISOMAL MULTIFUNCTIONAL ENZYME | BETA-OXIDATION | YEAST | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | RESOLUTION | DYNAMICS | SIMULATIONS | SPECTRUM | RESIDUES | DEHYDROGENASE | Hydro-Lyases - deficiency | Gonadal Dysgenesis, 46,XX - genetics | Saccharomyces cerevisiae - genetics | Humans | Child, Preschool | Substrate Specificity | Male | Structure-Activity Relationship | Genetic Complementation Test | Gonadal Dysgenesis, 46,XX - enzymology | Hearing Loss, Sensorineural - enzymology | Cloning, Molecular | Female | Hydro-Lyases - genetics | Child | Fatty Acids - metabolism | Peroxisomes - genetics | Catalytic Domain | Oxidation-Reduction | Enzyme Stability | Models, Molecular | Recombinant Proteins - chemistry | Lipid Metabolism | Hearing Loss, Sensorineural - genetics | Recombinant Proteins - genetics | Peroxisomal Multifunctional Protein-2 | 17-Hydroxysteroid Dehydrogenases - deficiency | Escherichia coli - genetics | 17-Hydroxysteroid Dehydrogenases - genetics | Hydro-Lyases - chemistry | Kinetics | Mutation | Peroxisomes - enzymology | 17-Hydroxysteroid Dehydrogenases - chemistry | Medicine, Experimental | Medical research | Enzymes | Amino acids | Recombinant proteins | Analysis | Yeast | Dehydrogenases | Structural stability | Physical chemistry | Variations | Biochemistry | Biosynthesis | Proteins | Computational chemistry | E coli | Catalysis | Deoxyribonucleic acid--DNA | Recombinant | Protein deficiency | Patients | Fatty acids | Substrates | Studies | Mutagenesis | Plasmids | D-Bifunctional protein | Protein expression | In vivo methods and tests | Molecular biology | Binding sites | Structure-function relationships | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2015, Volume 6, Issue 3, pp. 141 - 146
D-Bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe disorder of peroxisomal fatty acid oxidation. Nonspecific clinical... 
Original Article | Clinical workup | Whole-genome sequencing | Cost-effective care | D-Bifunctional protein deficiency | Original
Journal Article
Journal Article
Acta neuropathologica, ISSN 0001-6322, 2004, Volume 108, Issue 2, pp. 154 - 167
The clinical, neuroradiological, neuropathological and biochemical findings in a patient with optico-cochleo-dentate degeneration (OCDD; OMIM 258700) are... 
Medicine | Cerebellum | Peroxisomal disease | Optico-cochleo-dentate degeneration | D-bifunctional protein deficiency | Sural nerve | NERVES | DEFECT | ADRENOLEUKODYSTROPHY | DISORDERS | PATHOLOGY | IDENTIFICATION | NEUROSCIENCES | cerebellum | CLINICAL NEUROLOGY | MITOCHONDRIAL ABNORMALITIES | REFSUMS DISEASE | OXIDASE | COA HYDRATASE DEFICIENCY | sural nerve | optico-cochleo-dentate degeneration | peroxisomal disease | MOLECULAR-BASIS | Isomerases - deficiency | Optic Nerve - pathology | Cochlear Nerve - ultrastructure | Humans | Child, Preschool | Male | Case-Control Studies | Antigens, CD - metabolism | Sural Nerve - ultrastructure | Multienzyme Complexes - deficiency | Cerebellar Diseases - complications | Sural Nerve - pathology | Cerebellar Diseases - pathology | Vestibulocochlear Nerve Diseases - complications | Cochlear Nerve - pathology | Peripheral Nervous System Diseases - pathology | Enoyl-CoA Hydratase - deficiency | Peripheral Nervous System Diseases - complications | Cerebellar Nuclei - pathology | Optic Nerve - ultrastructure | Peroxisomal Disorders - complications | Microscopy, Electron | Peroxisomes - metabolism | Immunohistochemistry - methods | Cerebellar Nuclei - ultrastructure | Vestibulocochlear Nerve Diseases - pathology | Antigens, Differentiation, Myelomonocytic - metabolism | Peroxisomal Bifunctional Enzyme | 3-Hydroxyacyl CoA Dehydrogenases - deficiency | Postmortem Changes
Journal Article