Relevant bibliographies by topics / D-bifunctional protein deficiency

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Academic literature on the topic 'D-bifunctional protein deficiency'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "D-bifunctional protein deficiency"

1

Malin, Maija, Laura Pietikäinen, Kalervo Hiltunen, and Tuomo Glumoff. "Molecular basis of D-bifunctional protein deficiency." Acta Crystallographica Section A Foundations of Crystallography 65, a1 (2009): s142. http://dx.doi.org/10.1107/s0108767309097153.

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2

Dib, Rania, Pascale Karam, Mohamad Mikati, Steven Steinberg, and Mohamad Habbal. "D-bifunctional protein deficiency, a novel mutation." Journal of Pediatric Neurology 06, no. 04 (2015): 357–60. http://dx.doi.org/10.1055/s-0035-1557474.

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Möller, G., E. G. van Grunsven, R. J. A. Wanders, and J. Adamski. "Molecular basis of d-bifunctional protein deficiency." Molecular and Cellular Endocrinology 171, no. 1-2 (2001): 61–70. http://dx.doi.org/10.1016/s0303-7207(00)00388-9.

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4

Extraviz-Moreno, A., R. Calvo-Medina, C. Ruiz-García, and J. M. Ramos-Fernández. "Genotype of a severe D-bifunctional protein deficiency." Neurology Perspectives 2, no. 1 (2022): 56–59. http://dx.doi.org/10.1016/j.neurop.2021.10.008.

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5

Berezhanskaya, S. B., A. A. Afonin, N. N. Vostrikh, et al. "A clinical case of a familial form of hereditary metabolic disease from the group of peroxisomal diseases (D-bifunctional protein deficiency) in the neonatal period." Medical Herald of the South of Russia 14, no. 1 (2023): 56–65. http://dx.doi.org/10.21886/2219-8075-2023-14-1-56-65.

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Abstract:
A clinical case of a familial form of peroxisomal D-bifunctional protein (DBP) deficiency (OMIM 261515) with an unfavorable (fatal) outcome caused by a mutation in type 4 17ß-hydroxysteroid dehydrogenase (HSD17B4) with a nucleotide replacement of chr5:118788316G>A in the homozygous state is presented. (D-bifunctional protein deficiency or 17-beta-hydroxysteroid dehydrogenase IV deficiency). Bifunctional protein deficiency is an autosomal recessive birth defect of peroxisomal fatty acid oxidation. The total incidence of morbidity is one case per 50,000 newborns. Most peroxisomal disorders ma
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6

Amor, David J., Ashley P. L. Marsh, Elsdon Storey, et al. "Heterozygous mutations inHSD17B4cause juvenile peroxisomal D-bifunctional protein deficiency." Neurology Genetics 2, no. 6 (2016): e114. http://dx.doi.org/10.1212/nxg.0000000000000114.

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Ferdinandusse, Sacha, Simone Denis, Petra A. W. Mooyer, et al. "Clinical and biochemical spectrum of D-bifunctional protein deficiency." Annals of Neurology 59, no. 1 (2005): 92–104. http://dx.doi.org/10.1002/ana.20702.

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8

Konkoľová, J., R. Petrovič, J. Chandoga, et al. "Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia." Gene 568, no. 1 (2015): 61–68. http://dx.doi.org/10.1016/j.gene.2015.05.020.

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9

Buoni, Sabrina, Raffaella Zannolli, Hans Waterham, Ronald Wanders, and Alberto Fois. "D-bifunctional protein deficiency associated with drug resistant infantile spasms." Brain and Development 29, no. 1 (2007): 51–54. http://dx.doi.org/10.1016/j.braindev.2006.06.004.

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10

van Grunsven, E. G., P. A. W. Mooijer, P. Aubourg, and R. J. A. Wanders. "Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency." Human Molecular Genetics 8, no. 8 (1999): 1509–16. http://dx.doi.org/10.1093/hmg/8.8.1509.

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Book chapters on the topic "D-bifunctional protein deficiency"

1

Heidari, Reza. "D-Bifunctional Protein Deficiency." In Genetic Syndromes. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-66816-1_1734-1.

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"Peroxisomal D-Bifunctional Protein Deficiency." In Magnetic Resonance of Myelination and Myelin Disorders. Springer Berlin Heidelberg, 2005. http://dx.doi.org/10.1007/3-540-27660-2_19.

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Journal articles
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