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The Journal of Pediatrics
|
April 8, 2004
The importance of gut motility in the metabolic control of propionic acidemia
Chitra Prasad, Samuel Nurko, Jacob Borovoy, et al.
Clinical Biochemistry
|
October 23, 2004
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots
Pierre Allard, André Grenier, Mark S Korson, et al.
American Journal of Medical Genetics
|
September 5, 2002
Four cases with hypoplastic thumbs and encephaloceles
Taosheng Huang, Mark S Korson, Celeste Krauss, et al.
Clinical Biochemistry
|
September 17, 2004
Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer
Pierre Allard, Lurley D Cowell, Thomas H Zytkovicz, et al.
Harvard Review of Psychiatry
|
June 19, 2004
Neuropsychiatric illness in a patient with cobalamin G disease, an inherited disorder of vitamin B12 metabolism
Kevin P Hill, Christopher J Lukonis, Mark S Korson, et al.
Molecular Genetics and Metabolism
|
August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
Sandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Brendan Lee, George A Diaz, William Rhead, et al.
Hepatology (Baltimore, Md.)
|
September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
George A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.
Mitochondrion
|
July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
The Journal of Pediatrics
|
April 8, 2004
The importance of gut motility in the metabolic control of propionic acidemia
Chitra Prasad, Samuel Nurko, Jacob Borovoy, et al.
Clinical Biochemistry
|
October 23, 2004
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots
Pierre Allard, André Grenier, Mark S Korson, et al.
American Journal of Medical Genetics
|
September 5, 2002
Four cases with hypoplastic thumbs and encephaloceles
Taosheng Huang, Mark S Korson, Celeste Krauss, et al.
Clinical Biochemistry
|
September 17, 2004
Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer
Pierre Allard, Lurley D Cowell, Thomas H Zytkovicz, et al.
Harvard Review of Psychiatry
|
June 19, 2004
Neuropsychiatric illness in a patient with cobalamin G disease, an inherited disorder of vitamin B12 metabolism
Kevin P Hill, Christopher J Lukonis, Mark S Korson, et al.
Molecular Genetics and Metabolism
|
August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
Sandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Brendan Lee, George A Diaz, William Rhead, et al.
Hepatology (Baltimore, Md.)
|
September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
George A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.
Mitochondrion
|
July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Page
of 1