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JIMD reports

Showing results (471-480 of 1,250) with videos related to

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JIMD Reports|March 11, 2020
Papillary renal cell carcinoma in two young adults with glycogen storage disease type IaAriane Perry, Claire Douillard, Frederic Jonca, et al.
JIMD Reports|March 11, 2020
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptomsThomas J Langan, Kabir Jalal, Amy L Barczykowski, et al.
JIMD Reports|March 11, 2020
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterizationMonica Penon-Portmann, Stephanie Lotz-Esquivel, Alejandra Chavez Carrera, et al.
JIMD Reports|March 11, 2020
Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individualsAnna Bozano, Alessandra Schiaffino, Alessandra Spessa, et al.
JIMD Reports|March 11, 2020
Earwax: A potentially useful medium to identify inborn errors of metabolism?Stefan Krywawych, Maureen Cleary, Mel McSweeney, et al.
JIMD Reports|July 7, 2014
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)Sonya Dragneva, Monika Szyszka-Niagolov, Aneta Ivanova, et al.
JIMD Reports|May 6, 2016
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyAnne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, et al.
JIMD Reports|June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) DeficiencyAmanda Smith, Skye McBride, Julien L Marcadier, et al.
JIMD Reports|April 28, 2016
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase DeficiencyIrene De Biase, Krista S Viau, Aiping Liu, et al.
JIMD Reports|February 28, 2016
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS IJ Troko, Y Poonawala, T Geberhiwot, et al.
Pageof 125

Showing results (471-480 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|March 11, 2020
Papillary renal cell carcinoma in two young adults with glycogen storage disease type IaAriane Perry, Claire Douillard, Frederic Jonca, et al.
JIMD Reports|March 11, 2020
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptomsThomas J Langan, Kabir Jalal, Amy L Barczykowski, et al.
JIMD Reports|March 11, 2020
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterizationMonica Penon-Portmann, Stephanie Lotz-Esquivel, Alejandra Chavez Carrera, et al.
JIMD Reports|March 11, 2020
Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individualsAnna Bozano, Alessandra Schiaffino, Alessandra Spessa, et al.
JIMD Reports|March 11, 2020
Earwax: A potentially useful medium to identify inborn errors of metabolism?Stefan Krywawych, Maureen Cleary, Mel McSweeney, et al.
JIMD Reports|July 7, 2014
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)Sonya Dragneva, Monika Szyszka-Niagolov, Aneta Ivanova, et al.
JIMD Reports|May 6, 2016
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyAnne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, et al.
JIMD Reports|June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) DeficiencyAmanda Smith, Skye McBride, Julien L Marcadier, et al.
JIMD Reports|April 28, 2016
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase DeficiencyIrene De Biase, Krista S Viau, Aiping Liu, et al.
JIMD Reports|February 28, 2016
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS IJ Troko, Y Poonawala, T Geberhiwot, et al.
Pageof 125