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JIMD reports

Showing results (261-270 of 1,270) with videos related to

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JIMD Reports|February 19, 2015
Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders GuidelinesJohannes Häberle, Martina Huemer
JIMD Reports|February 15, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Francesca Angileri, Anne Bergeron, Geneviève Morrow, et al.
JIMD Reports|March 13, 2015
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase DeficiencyLise Aksglaede, Mette Christensen, Jess H Olesen, et al.
JIMD Reports|April 6, 2015
Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the LiteratureEvelina Maines, Grazia Morandi, Francesca Olivieri, et al.
JIMD Reports|March 20, 2015
Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in AlkaptonuriaF Genovese, A S Siebuhr, K Musa, et al.
JIMD Reports|March 20, 2015
Age-Related Deviation of Gait from Normality in AlkaptonuriaGabor J Barton, Stephanie L King, Mark A Robinson, et al.
JIMD Reports|March 13, 2015
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian PatientsNeerja Gupta, Pawan Kumar Singh, Manoj Kumar, et al.
JIMD Reports|February 22, 2015
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD ConsortiumStefan Kölker, Dries Dobbelaere, Johannes Häberle, et al.
JIMD Reports|January 22, 2015
Refsum Disease Presenting with a Late-Onset LeukodystrophyFlavie Bompaire, Véronique Marcaud, Emmanuelle Le Trionnaire, et al.
JIMD Reports|January 24, 2015
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the LiteratureMaines Evelina, Morandi Grazia, Olivieri Francesca, et al.
Pageof 127

Showing results (261-270 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|February 19, 2015
Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders GuidelinesJohannes Häberle, Martina Huemer
JIMD Reports|February 15, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Francesca Angileri, Anne Bergeron, Geneviève Morrow, et al.
JIMD Reports|March 13, 2015
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase DeficiencyLise Aksglaede, Mette Christensen, Jess H Olesen, et al.
JIMD Reports|April 6, 2015
Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the LiteratureEvelina Maines, Grazia Morandi, Francesca Olivieri, et al.
JIMD Reports|March 20, 2015
Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in AlkaptonuriaF Genovese, A S Siebuhr, K Musa, et al.
JIMD Reports|March 20, 2015
Age-Related Deviation of Gait from Normality in AlkaptonuriaGabor J Barton, Stephanie L King, Mark A Robinson, et al.
JIMD Reports|March 13, 2015
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian PatientsNeerja Gupta, Pawan Kumar Singh, Manoj Kumar, et al.
JIMD Reports|February 22, 2015
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD ConsortiumStefan Kölker, Dries Dobbelaere, Johannes Häberle, et al.
JIMD Reports|January 22, 2015
Refsum Disease Presenting with a Late-Onset LeukodystrophyFlavie Bompaire, Véronique Marcaud, Emmanuelle Le Trionnaire, et al.
JIMD Reports|January 24, 2015
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the LiteratureMaines Evelina, Morandi Grazia, Olivieri Francesca, et al.
Pageof 127