Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis-Reference-Cited by-同舟云学术

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Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis

Published:1999-01 Issue:1 Volume:64 Page:99-107
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

van Grunsven E.G.,van Berkel E.,Mooijer P.A.W.,Watkins P.A.,Moser H.W.,Suzuki Y.,Jiang L.L.,Hashimoto T.,Hoefler G.,Adamski J.,Wanders R.J.A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference43 articles.

1. Molecular cloning of a novel widely expressed human 80 kDa 17 beta-hydroxysteroid dehydrogenase IV;Adamski;Biochem J,1995

2. Substrate Specificities of 3-Oxoacyl-CoA Thiolase A and Sterol Carrier Protein 2/3-Oxoacyl-CoA Thiolase Purified from Normal Rat Liver Peroxisomes

3. Thiolase involved in bile acid formation;Bunya;J Biochem (Tokyo),1998

4. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction;Chomczynski;Anal Biochem,1987

5. Evidence that multifunctional protein 2, and not multifunctional protein 1, is involved in the peroxisomal beta-oxidation of pristanic acid;Dieuaide-Noubhani;Biochem J,1997

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1. D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature;International Journal of Molecular Sciences;2024-04-30

2. Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene;Genetics in Medicine;2023-11

3. 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;2023-03-28

4. Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review;Frontiers in Pediatrics;2021-07-23

5. Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease;Molecular Genetics and Metabolism Reports;2020-12

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