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JIMD Reports
|
March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
December 30, 2015
p300 is not required for metabolic adaptation to endurance exercise training
Samuel A LaBarge, Christopher W Migdal, Elisa H Buckner, et al.
Kidney International
|
May 17, 2016
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference
Craig B Langman, Bruce A Barshop, Georges DeschĂȘnes, et al.
Journal of the American Society of Nephrology : JASN
|
September 7, 2013
Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD
Daryl M Okamura, Nadia M Bahrami, Shuyu Ren, et al.
Molecular Genetics and Metabolism
|
October 3, 2002
Pyruvate carboxylase deficiency--insights from liver transplantation
William L Nyhan, Ajai Khanna, Bruce A Barshop, et al.
Molecular Genetics and Metabolism
|
February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
J Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
Pediatrics
|
October 3, 2007
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine
Lynne A Wolfe, David N Finegold, Jerry Vockley, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2017
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Barry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, et al.
Molecular Genetics and Metabolism
|
March 20, 2012
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
Natalie M Gallant, Karen Leydiker, Hao Tang, et al.
The Journal of Biological Chemistry
|
December 16, 2005
Decreased renal organic anion secretion and plasma accumulation of endogenous organic anions in OAT1 knock-out mice
Satish A Eraly, Volker Vallon, Duke A Vaughn, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 67) with videos related to
Sort By:
Page
of 7
JIMD Reports
|
March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
December 30, 2015
p300 is not required for metabolic adaptation to endurance exercise training
Samuel A LaBarge, Christopher W Migdal, Elisa H Buckner, et al.
Kidney International
|
May 17, 2016
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference
Craig B Langman, Bruce A Barshop, Georges DeschĂȘnes, et al.
Journal of the American Society of Nephrology : JASN
|
September 7, 2013
Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD
Daryl M Okamura, Nadia M Bahrami, Shuyu Ren, et al.
Molecular Genetics and Metabolism
|
October 3, 2002
Pyruvate carboxylase deficiency--insights from liver transplantation
William L Nyhan, Ajai Khanna, Bruce A Barshop, et al.
Molecular Genetics and Metabolism
|
February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
J Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
Pediatrics
|
October 3, 2007
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine
Lynne A Wolfe, David N Finegold, Jerry Vockley, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2017
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Barry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, et al.
Molecular Genetics and Metabolism
|
March 20, 2012
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
Natalie M Gallant, Karen Leydiker, Hao Tang, et al.
The Journal of Biological Chemistry
|
December 16, 2005
Decreased renal organic anion secretion and plasma accumulation of endogenous organic anions in OAT1 knock-out mice
Satish A Eraly, Volker Vallon, Duke A Vaughn, et al.
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of 7