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JIMD reports

Showing results (1-10 of 1,268) with videos related to

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JIMD Reports|November 9, 2014
Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking AheadBrook M Pyhtila, Kelly A Shaw, Samantha E Neumann, et al.
JIMD Reports|November 8, 2015
Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model MiceEri Kawashita, Daisuke Tsuji, Yosuke Kanno, et al.
JIMD Reports|November 8, 2015
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) DeficiencyA Strandqvist, C Bieneck Haglind, R H Zetterström, et al.
JIMD Reports|June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
JIMD Reports|June 24, 2016
Management of an LCHADD Patient During Pregnancy and High Intensity ExerciseD C D van Eerd, I A Brussé, V F R Adriaens, et al.
JIMD Reports|June 24, 2016
Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement TherapySophy Korula, Penny Owens, Amanda Charlton, et al.
JIMD Reports|June 17, 2016
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological RegressionShohei Akagawa, Toshiyuki Fukao, Yuko Akagawa, et al.
JIMD Reports|June 14, 2016
Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine ProfilesM Rebecca Heiner-Fokkema, Frédéric M Vaz, Ronald Maatman, et al.
JIMD Reports|June 15, 2016
Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy InfantsClaude Bachmann, Alexander Kainz, Elisabeth Haschke-Becher
JIMD Reports|November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemiaMariella Simon, Richard C Chang, Deeksha S Bali, et al.
Pageof 127

Showing results (1-10 of 1,268) with videos related to

Sort By:
Pageof 127
JIMD Reports|November 9, 2014
Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking AheadBrook M Pyhtila, Kelly A Shaw, Samantha E Neumann, et al.
JIMD Reports|November 8, 2015
Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model MiceEri Kawashita, Daisuke Tsuji, Yosuke Kanno, et al.
JIMD Reports|November 8, 2015
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) DeficiencyA Strandqvist, C Bieneck Haglind, R H Zetterström, et al.
JIMD Reports|June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
JIMD Reports|June 24, 2016
Management of an LCHADD Patient During Pregnancy and High Intensity ExerciseD C D van Eerd, I A Brussé, V F R Adriaens, et al.
JIMD Reports|June 24, 2016
Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement TherapySophy Korula, Penny Owens, Amanda Charlton, et al.
JIMD Reports|June 17, 2016
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological RegressionShohei Akagawa, Toshiyuki Fukao, Yuko Akagawa, et al.
JIMD Reports|June 14, 2016
Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine ProfilesM Rebecca Heiner-Fokkema, Frédéric M Vaz, Ronald Maatman, et al.
JIMD Reports|June 15, 2016
Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy InfantsClaude Bachmann, Alexander Kainz, Elisabeth Haschke-Becher
JIMD Reports|November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemiaMariella Simon, Richard C Chang, Deeksha S Bali, et al.
Pageof 127