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JIMD Reports
|
August 27, 2014
The complexity of newborn screening follow-up in phenylketonuria
Leah E Hecht, Ann E Wessel, Harvey L Levy, et al.
Metabolism: Clinical and Experimental
|
February 8, 2018
Hereditary galactosemia
Didem Demirbas, Ana I Coelho, M Estela Rubio-Gozalbo, et al.
Molecular Genetics and Metabolism
|
September 25, 2010
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies
Yijun Li, Adam S Ptolemy, Lauren Harmonay, et al.
Pediatric Emergency Care
|
November 3, 2017
Acute Illness Protocol for Maple Syrup Urine Disease
Lance H Rodan, Saud H Aldubayan, Gerard T Berry, et al.
Bipolar Disorders
|
May 3, 2008
Homozygote inositol transporter knockout mice show a lithium-like phenotype
Yuly Bersudsky, Alona Shaldubina, Galila Agam, et al.
Pediatric Emergency Care
|
November 15, 2017
Acute Illness Protocol for Urea Cycle Disorders
Lance H Rodan, Saud H Aldubayan, Gerard T Berry, et al.
Human Mutation
|
March 21, 2012
Back to the future: from genome to metabolome
Joseph V Thakuria, Alexander W Zaranek, George M Church, et al.
Pediatric Emergency Care
|
February 1, 2017
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia
Saud H Aldubayan, Lance H Rodan, Gerard T Berry, et al.
Clinical Chemistry
|
March 30, 2010
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry
Yijun Li, Adam S Ptolemy, Lauren Harmonay, et al.
Clinical Chemistry
|
November 30, 2018
Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability
Naif A M Almontashiri, Gerard T Berry, Joseph Majzoub, et al.
Page
of 14
Search research articles
Search
Showing results (21-30 of 138) with videos related to
Sort By:
Page
of 14
JIMD Reports
|
August 27, 2014
The complexity of newborn screening follow-up in phenylketonuria
Leah E Hecht, Ann E Wessel, Harvey L Levy, et al.
Metabolism: Clinical and Experimental
|
February 8, 2018
Hereditary galactosemia
Didem Demirbas, Ana I Coelho, M Estela Rubio-Gozalbo, et al.
Molecular Genetics and Metabolism
|
September 25, 2010
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies
Yijun Li, Adam S Ptolemy, Lauren Harmonay, et al.
Pediatric Emergency Care
|
November 3, 2017
Acute Illness Protocol for Maple Syrup Urine Disease
Lance H Rodan, Saud H Aldubayan, Gerard T Berry, et al.
Bipolar Disorders
|
May 3, 2008
Homozygote inositol transporter knockout mice show a lithium-like phenotype
Yuly Bersudsky, Alona Shaldubina, Galila Agam, et al.
Pediatric Emergency Care
|
November 15, 2017
Acute Illness Protocol for Urea Cycle Disorders
Lance H Rodan, Saud H Aldubayan, Gerard T Berry, et al.
Human Mutation
|
March 21, 2012
Back to the future: from genome to metabolome
Joseph V Thakuria, Alexander W Zaranek, George M Church, et al.
Pediatric Emergency Care
|
February 1, 2017
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia
Saud H Aldubayan, Lance H Rodan, Gerard T Berry, et al.
Clinical Chemistry
|
March 30, 2010
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry
Yijun Li, Adam S Ptolemy, Lauren Harmonay, et al.
Clinical Chemistry
|
November 30, 2018
Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability
Naif A M Almontashiri, Gerard T Berry, Joseph Majzoub, et al.
Page
of 14