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JIMD reports

Showing results (231-240 of 1,270) with videos related to

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JIMD Reports|May 7, 2014
Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to CystinosisM Besouw, E Cornelissen, D Cassiman, et al.
JIMD Reports|February 12, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of AgeChristina Lampe, Andrea Atherton, Barbara K Burton, et al.
JIMD Reports|October 24, 2018
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase DeficiencyChristina Peroutka, Jacqueline Salas, Jacquelyn Britton, et al.
JIMD Reports|February 22, 2017
Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific PhysiopathologyGustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, et al.
JIMD Reports|February 22, 2017
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United KingdomDanja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, et al.
JIMD Reports|March 22, 2017
The Impact of Fabry Disease on Reproductive FitnessDawn A Laney, Virginia Clarke, Allison Foley, et al.
JIMD Reports|March 10, 2017
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?M Fleger, J Willomitzer, R Meinsma, et al.
JIMD Reports|March 12, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyDeeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
JIMD Reports|January 21, 2017
The Spectrum of Niemann-Pick Type C Disease in GreeceIrene Mavridou, Evangelia Dimitriou, Marie T Vanier, et al.
JIMD Reports|March 16, 2017
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with PhenylketonuriaCharlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, et al.
Pageof 127

Showing results (231-240 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|May 7, 2014
Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to CystinosisM Besouw, E Cornelissen, D Cassiman, et al.
JIMD Reports|February 12, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of AgeChristina Lampe, Andrea Atherton, Barbara K Burton, et al.
JIMD Reports|October 24, 2018
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase DeficiencyChristina Peroutka, Jacqueline Salas, Jacquelyn Britton, et al.
JIMD Reports|February 22, 2017
Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific PhysiopathologyGustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, et al.
JIMD Reports|February 22, 2017
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United KingdomDanja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, et al.
JIMD Reports|March 22, 2017
The Impact of Fabry Disease on Reproductive FitnessDawn A Laney, Virginia Clarke, Allison Foley, et al.
JIMD Reports|March 10, 2017
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?M Fleger, J Willomitzer, R Meinsma, et al.
JIMD Reports|March 12, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyDeeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
JIMD Reports|January 21, 2017
The Spectrum of Niemann-Pick Type C Disease in GreeceIrene Mavridou, Evangelia Dimitriou, Marie T Vanier, et al.
JIMD Reports|March 16, 2017
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with PhenylketonuriaCharlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, et al.
Pageof 127