Inborn Errors of Metabolism
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Published By Oxford University Press

9780199797585

Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Cholesterol, Sterols, and Isoprenoids

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0009 ◽

2014 ◽

pp. 203-224

Author(s):

Yasemen Eroglu ◽

Jean-Baptiste Roullet ◽

Robert D. Steiner

Cell and Organ Transplantation for Inborn Errors of Metabolism

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0012 ◽

2014 ◽

pp. 271-279

Author(s):

Alberto Burlina ◽

Andrea Bordugo ◽

Georg F. Hoffmann ◽

Jochen Meyburg

Keyword(s):

Organ Transplantation ◽

Inborn Errors Of Metabolism ◽

Inborn Errors

Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0011 ◽

2014 ◽

pp. 241-268

Author(s):

Uta Lichter-Konecki

Disorders of One-Carbon Metabolism

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0010 ◽

2014 ◽

pp. 225-240

Author(s):

Luis Umaña ◽

William J. Craigen

Keyword(s):

Carbon Metabolism ◽

One Carbon Metabolism

Mitochondrial Disorders

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0008 ◽

2014 ◽

pp. 180-202

Author(s):

Ayman W. El-Hattab ◽

Fernando Scaglia

Keyword(s):

Mitochondrial Disorders

Fatty Acid Metabolism and Defects

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0007 ◽

2014 ◽

pp. 152-179 ◽

Cited By ~ 1

Author(s):

Marwan S. Shinawi ◽

Lutfi A. Abu-Elheiga

Keyword(s):

Fatty Acid ◽

Fatty Acid Metabolism ◽

Acid Metabolism

Branched Chain Amino Acid Disorders

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0004 ◽

2014 ◽

pp. 92-118

Author(s):

Irini Manoli ◽

Charles Venditti

Keyword(s):

Amino Acid ◽

Branched Chain Amino Acid ◽

Branched Chain

Substrate Deprivation Therapy

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0016 ◽

2014 ◽

pp. 346-356

Author(s):

Marc C. Patterson

Keyword(s):

Substrate Deprivation

Chaperone Therapy for the Lysosomal Storage Disorders

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0015 ◽

2014 ◽

pp. 328-345

Author(s):

Alexander J. Choi ◽

Robert Burnett ◽

Ehud Goldin ◽

Wei Zheng ◽

Ellen Sidransky

Keyword(s):

Lysosomal Storage Disorders ◽

Lysosomal Storage ◽

Storage Disorders

Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders

Inborn Errors of Metabolism ◽

10.1093/med/9780199797585.003.0014 ◽

2014 ◽

pp. 303-327

Author(s):

Gregory M. Pastores ◽

Christine M. Eng

Keyword(s):

Lysosomal Storage Disorders ◽

Lysosomal Storage ◽

Enzyme Replacement ◽

Storage Disorders