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JIMD reports

Showing results (551-560 of 1,250) with videos related to

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JIMD Reports|March 6, 2023
Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrumChristopher D Ma, Denise Faust, Herbert L Bonkovsky
JIMD Reports|March 6, 2023
Health-related quality of life and patient-reported outcome measurements in patients with cystinosisStefanie Witt, Kaja Kristensen, Katharina Hohenfellner, et al.
JIMD Reports|August 13, 2016
Argininosuccinic Acid Lyase Deficiency Missed by Newborn ScreenRebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, et al.
JIMD Reports|June 22, 2015
High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type IaNicole T Lawrence, Tayoot Chengsupanimit, Laurie M Brown, et al.
JIMD Reports|June 22, 2015
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical AnalysisN B Roberts, S A Curtis, A M Milan, et al.
JIMD Reports|June 26, 2015
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 GangliosidosisJoão Stein Kannebley, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, et al.
JIMD Reports|June 26, 2015
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?D Coman, P Lewindon, P Clayton, et al.
JIMD Reports|June 26, 2015
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular FindingsEvangelia Dimitriou, Monica Cozar, Irene Mavridou, et al.
JIMD Reports|July 1, 2015
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPIMari Kärki, Kirsti Näntö-Salonen, Harri Niinikoski, et al.
JIMD Reports|July 1, 2015
Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson's DiseaseA Lawrence, J Saini, S Sinha, et al.
Pageof 125

Showing results (551-560 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|March 6, 2023
Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrumChristopher D Ma, Denise Faust, Herbert L Bonkovsky
JIMD Reports|March 6, 2023
Health-related quality of life and patient-reported outcome measurements in patients with cystinosisStefanie Witt, Kaja Kristensen, Katharina Hohenfellner, et al.
JIMD Reports|August 13, 2016
Argininosuccinic Acid Lyase Deficiency Missed by Newborn ScreenRebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, et al.
JIMD Reports|June 22, 2015
High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type IaNicole T Lawrence, Tayoot Chengsupanimit, Laurie M Brown, et al.
JIMD Reports|June 22, 2015
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical AnalysisN B Roberts, S A Curtis, A M Milan, et al.
JIMD Reports|June 26, 2015
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 GangliosidosisJoão Stein Kannebley, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, et al.
JIMD Reports|June 26, 2015
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?D Coman, P Lewindon, P Clayton, et al.
JIMD Reports|June 26, 2015
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular FindingsEvangelia Dimitriou, Monica Cozar, Irene Mavridou, et al.
JIMD Reports|July 1, 2015
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPIMari Kärki, Kirsti Näntö-Salonen, Harri Niinikoski, et al.
JIMD Reports|July 1, 2015
Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson's DiseaseA Lawrence, J Saini, S Sinha, et al.
Pageof 125