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JIMD reports

Showing results (451-460 of 1,250) with videos related to

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JIMD Reports|July 21, 2020
The Lysosomal Diseases Testing Laboratory: A review of the past 47 yearsDavid A Wenger, Paola Luzi
JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.
JIMD Reports|March 31, 2015
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to SapropterinFriedrich K Trefz, Ania C Muntau, Florian B Lagler, et al.
JIMD Reports|May 8, 2023
Paracetamol toxicity in classic homocystinuria: Effect of <i>N</i>-acetylcysteine on total homocysteineNour Elkhateeb, Sarah Hyde, Sarah L Hogg, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
JIMD Reports|May 8, 2023
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in <i>NBAS</i>Bianca Peters, Felix Wiemers, Dominic Lenz, et al.
JIMD Reports|January 28, 2014
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic CystinosisNeveen A Soliman, Mohamed A Elmonem, Lambertus van den Heuvel, et al.
JIMD Reports|May 23, 2014
Laronidase replacement therapy and left ventricular function in mucopolysaccharidosis IHaruhito Harada, Hiroshi Niiyama, Atsushi Katoh, et al.
JIMD Reports|September 14, 2022
Bone disease in early detected Gaucher Type I disease: A case reportVincenza Gragnaniello, Alessandro P Burlina, Renzo Manara, et al.
JIMD Reports|September 14, 2022
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case reportNina N Stolwijk, Mirjam Langeveld, Bart A W Jacobs, et al.
Pageof 125

Showing results (451-460 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|July 21, 2020
The Lysosomal Diseases Testing Laboratory: A review of the past 47 yearsDavid A Wenger, Paola Luzi
JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.
JIMD Reports|March 31, 2015
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to SapropterinFriedrich K Trefz, Ania C Muntau, Florian B Lagler, et al.
JIMD Reports|May 8, 2023
Paracetamol toxicity in classic homocystinuria: Effect of <i>N</i>-acetylcysteine on total homocysteineNour Elkhateeb, Sarah Hyde, Sarah L Hogg, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
JIMD Reports|May 8, 2023
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in <i>NBAS</i>Bianca Peters, Felix Wiemers, Dominic Lenz, et al.
JIMD Reports|January 28, 2014
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic CystinosisNeveen A Soliman, Mohamed A Elmonem, Lambertus van den Heuvel, et al.
JIMD Reports|May 23, 2014
Laronidase replacement therapy and left ventricular function in mucopolysaccharidosis IHaruhito Harada, Hiroshi Niiyama, Atsushi Katoh, et al.
JIMD Reports|September 14, 2022
Bone disease in early detected Gaucher Type I disease: A case reportVincenza Gragnaniello, Alessandro P Burlina, Renzo Manara, et al.
JIMD Reports|September 14, 2022
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case reportNina N Stolwijk, Mirjam Langeveld, Bart A W Jacobs, et al.
Pageof 125