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JIMD reports

Showing results (131-140 of 1,270) with videos related to

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JIMD Reports|September 28, 2015
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)Jerold Jeyaratnam, Nienke M Ter Haar, Monique G M de Sain-van der Velden, et al.
JIMD Reports|August 26, 2015
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry DiseaseOzlem Goker-Alpan, Michael J Gambello, Gustavo H B Maegawa, et al.
JIMD Reports|October 11, 2015
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD DeficiencyEugene Diekman, Monique de Sain-van der Velden, Hans Waterham, et al.
JIMD Reports|October 11, 2015
Further Delineation of the ALG9-CDG PhenotypeSarah AlSubhi, Amal AlHashem, Anas AlAzami, et al.
JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
JIMD Reports|July 21, 2017
Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?A Broomfield, J Fletcher, P Hensman, et al.
JIMD Reports|June 27, 2016
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IVHaiqing Yi, Quan Zhang, Chunyu Yang, et al.
JIMD Reports|June 27, 2016
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?Uri Zilberman, Haim Bibi
JIMD Reports|November 27, 2015
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein IntoleranceC Nicolas, N Bednarek, V Vuiblet, et al.
JIMD Reports|October 3, 2015
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial DysfunctionDorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, et al.
Pageof 127

Showing results (131-140 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|September 28, 2015
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)Jerold Jeyaratnam, Nienke M Ter Haar, Monique G M de Sain-van der Velden, et al.
JIMD Reports|August 26, 2015
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry DiseaseOzlem Goker-Alpan, Michael J Gambello, Gustavo H B Maegawa, et al.
JIMD Reports|October 11, 2015
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD DeficiencyEugene Diekman, Monique de Sain-van der Velden, Hans Waterham, et al.
JIMD Reports|October 11, 2015
Further Delineation of the ALG9-CDG PhenotypeSarah AlSubhi, Amal AlHashem, Anas AlAzami, et al.
JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
JIMD Reports|July 21, 2017
Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?A Broomfield, J Fletcher, P Hensman, et al.
JIMD Reports|June 27, 2016
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IVHaiqing Yi, Quan Zhang, Chunyu Yang, et al.
JIMD Reports|June 27, 2016
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?Uri Zilberman, Haim Bibi
JIMD Reports|November 27, 2015
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein IntoleranceC Nicolas, N Bednarek, V Vuiblet, et al.
JIMD Reports|October 3, 2015
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial DysfunctionDorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, et al.
Pageof 127