Jose E. Abdenur - Division of Metabolic Disorders, Children’s Hospital, of Orange County

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论文共 114 篇作者统计合作学者相似作者

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Bioenergetics and Antioxidant Status in Human TFAM Deficient Fibroblasts

Milad Gazanfari,Wei-Lin Huang,Tuany Eichwald,Alexander Stover, Phillip H. Schwartz,Alexandra Latini,Jose Abdenur

Molecular Genetics and Metabolismno. 4 (2024): 108187-108187

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Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): Report of a New Family and a Novel DARS2 Mutation

Wei-Lin Huang, Maija R. Steenari,Rebekah Barrick,Mariella T. Simon,Richard Chang,Shaya S. Eftekharian,Alexander Stover,Philip H. Schwartz,Alexandra Latini,Jose E. Abdenur

MOLECULAR GENETICS AND METABOLISM REPORTS (2024)

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Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions

Carlos F. Mares Beltran,Christina G. Tise,Rebekah Barrick,Annie D. Niehaus, Rebecca Sponberg,Richard Chang,Gregory M. Enns,Jose E. Abdenur

Genes（2024）

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Tetrahydrobiopterin: Beyond Its Traditional Role As a Cofactor

Tuany Eichwald, Lucila de Bortoli da Silva,Ananda Christina Staats Pires, Laís Niero,Erick Schnorrenberger, Clovis Colpani Filho,Gisele Espíndola,Wei-Lin Huang,Gilles J Guillemin,José E Abdenur,Alexandra Latini

Antioxidants (Basel, Switzerland)no. 5 (2023)

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BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM

Carlos Mares Beltran,Jose Abdenur,Richard Chang,Rebekah Barrick,Rebecca Spongberg,Christina G. Tise,Annie D. Niehaus,Gregory Enns

Molecular genetics and metabolismno. 3 (2023): 107455-107455

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ENHANCED ENERGY METABOLISM AND CYTOPROTECTION IN AMINOLEVULINATE/IRON-EXPOSED DEFICIENT FIBROBLASTS

Alexandra Latini,Weilin Huang,Tuany Eichwald,Alexander E. Stover,Philip H. Schwartz,José E. Abdenur

Molecular genetics and metabolismno. 3 (2023): 107440-107440

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Enhanced energy metabolism and cytoprotection in aminolevulinate/iron-exposed dars2 deficient fibroblasts

Alexandra Latini,Wei-Lin Huang,Tuany Eichwald,Alexander Stover,Philip Schwartz,Jose Abdenur

Molecular Genetics and Metabolismno. 3 (2023): 63-64

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RIBOFLAVIN DEFICIENCY-INDUCED METABOLIC CRISIS DUE TO VITAMIN SHORATGE IN A PREMATURE BABY WITH PROLONGED TPN DEPENDENCE

Carlos Mares Beltran,Monica A. Boyer, Allison Jun, Michel Michael,Jose E. Abdenur

Molecular Genetics and Metabolism（2022）

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Ep208: GSD IX Natural History and Novel Liver Disease Severity Score: Multicenter International Collaboration Uncovers Longitudinal Trends in Liver Disease Severity

Anna Paschall,Alisha Mavis,Aruna Rikhi,Vikrant Sood,Gilda Porta,Sheela Nampoothiri,Neerja Gupta,Jose Abdenur,Andrew Muir,Priya Kishnani

Genetics in medicineno. 3 (2022): S129-S130

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LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS

Wei-Lin Huang,Mariella Simon,Alexander Stover,Richard Chang,Philip Schwartz,Jose E. Abdenur

Molecular genetics and metabolismno. 4 (2022): 279-279

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