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JIMD Reports
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June 10, 2026
Expanding the <i>MRPS34</i> Genotype-Phenotype Correlation: Two Novel Cases and a Cohort Review
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, et al.
JIMD Reports
|
April 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
Liana N Semcesen, Megan Ball, Daniella H Hock, et al.
JIMD Reports
|
June 8, 2026
Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development
Aura Cecilia Jimenez-Moreno, Alasdair Blain, Cathy Anne Pinto, et al.
JIMD Reports
|
July 5, 2023
Plasma calprotectin is extremely high in patients with lysinuric protein intolerance
Mari Kärki, Laura Tanner, Satu Lahtinen, et al.
JIMD Reports
|
January 29, 2017
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency
Kathryn E Coakley, Eric I Felner, Vin Tangpricha, et al.
JIMD Reports
|
June 17, 2026
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study
Yoichi Wada, Mahoko Furujo, Kenichi Kashimada, et al.
JIMD Reports
|
February 23, 2013
Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU : Low Phe Diet for Adults with PKU
Ingrid Wiig, Kristina Motzfeldt, Elin Bjørge Løken, et al.
JIMD Reports
|
March 4, 2015
Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria
T Bosdet, J Branov, C Selvage, et al.
JIMD Reports
|
February 20, 2020
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry using low cost derivatization and an automated liquid handler
William S Phipps, Eric Crossley, Richard Boriack, et al.
JIMD Reports
|
March 14, 2022
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
Francyne Kubaski, Zackary M Herbst, Maira Graeff Burin, et al.
Page
of 125
Search research articles
Search
Showing results (891-900 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
June 10, 2026
Expanding the <i>MRPS34</i> Genotype-Phenotype Correlation: Two Novel Cases and a Cohort Review
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, et al.
JIMD Reports
|
April 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
Liana N Semcesen, Megan Ball, Daniella H Hock, et al.
JIMD Reports
|
June 8, 2026
Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development
Aura Cecilia Jimenez-Moreno, Alasdair Blain, Cathy Anne Pinto, et al.
JIMD Reports
|
July 5, 2023
Plasma calprotectin is extremely high in patients with lysinuric protein intolerance
Mari Kärki, Laura Tanner, Satu Lahtinen, et al.
JIMD Reports
|
January 29, 2017
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency
Kathryn E Coakley, Eric I Felner, Vin Tangpricha, et al.
JIMD Reports
|
June 17, 2026
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study
Yoichi Wada, Mahoko Furujo, Kenichi Kashimada, et al.
JIMD Reports
|
February 23, 2013
Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU : Low Phe Diet for Adults with PKU
Ingrid Wiig, Kristina Motzfeldt, Elin Bjørge Løken, et al.
JIMD Reports
|
March 4, 2015
Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria
T Bosdet, J Branov, C Selvage, et al.
JIMD Reports
|
February 20, 2020
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry using low cost derivatization and an automated liquid handler
William S Phipps, Eric Crossley, Richard Boriack, et al.
JIMD Reports
|
March 14, 2022
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
Francyne Kubaski, Zackary M Herbst, Maira Graeff Burin, et al.
Page
of 125