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JIMD reports

Showing results (971-980 of 1,250) with videos related to

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JIMD Reports|March 14, 2022
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and geneticsDavid Olsson, Michela Barbaro, Charlotte Haglind, et al.
JIMD Reports|March 14, 2022
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disordersMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.
JIMD Reports|March 14, 2022
Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndromeJessie Yester, Brian Feingold
JIMD Reports|September 23, 2018
Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage DiseasesChenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, et al.
JIMD Reports|October 13, 2018
Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre ExperienceNaresh P Shanmugam, Joseph J Valamparampil, Mettu Srinivas Reddy, et al.
JIMD Reports|August 12, 2018
Cobalamin D Deficiency Identified Through Newborn ScreeningAya Abu-El-Haija, Bryce A Mendelsohn, Jacque L Duncan, et al.
JIMD Reports|August 26, 2016
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum DisorderC Maxit, I Denzler, D Marchione, et al.
JIMD Reports|May 17, 2017
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry RegistryWilliam R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, et al.
JIMD Reports|June 24, 2017
A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic AssessmentMitra Azadeh, Luying Pan, Yongchang Qiu, et al.
JIMD Reports|June 1, 2017
Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient MiceMasashi Morita, Ayako Honda, Akira Kobayashi, et al.
Pageof 125

Showing results (971-980 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|March 14, 2022
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and geneticsDavid Olsson, Michela Barbaro, Charlotte Haglind, et al.
JIMD Reports|March 14, 2022
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disordersMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.
JIMD Reports|March 14, 2022
Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndromeJessie Yester, Brian Feingold
JIMD Reports|September 23, 2018
Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage DiseasesChenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, et al.
JIMD Reports|October 13, 2018
Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre ExperienceNaresh P Shanmugam, Joseph J Valamparampil, Mettu Srinivas Reddy, et al.
JIMD Reports|August 12, 2018
Cobalamin D Deficiency Identified Through Newborn ScreeningAya Abu-El-Haija, Bryce A Mendelsohn, Jacque L Duncan, et al.
JIMD Reports|August 26, 2016
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum DisorderC Maxit, I Denzler, D Marchione, et al.
JIMD Reports|May 17, 2017
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry RegistryWilliam R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, et al.
JIMD Reports|June 24, 2017
A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic AssessmentMitra Azadeh, Luying Pan, Yongchang Qiu, et al.
JIMD Reports|June 1, 2017
Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient MiceMasashi Morita, Ayako Honda, Akira Kobayashi, et al.
Pageof 125