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JIMD reports

Showing results (341-350 of 1,270) with videos related to

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JIMD Reports|March 14, 2022
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomicsLucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, et al.
JIMD Reports|March 14, 2022
A novel variant of fructose-1,6-bisphosphatase gene identified in an adult with newly diagnosed hepatitis CHelena Fawdry, Rebecca Gorrigan, Radha Ramachandran, et al.
JIMD Reports|March 14, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid regionÁlvaro Martín-Rivada, Laura Palomino Pérez, Pedro Ruiz-Sala, et al.
JIMD Reports|May 14, 2018
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with NitisinoneA S Davison, B P Norman, E A Smith, et al.
JIMD Reports|November 6, 2023
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, et al.
JIMD Reports|November 6, 2023
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature reviewAngela Lee, Renatta Knox, Margaret Reynolds, et al.
JIMD Reports|November 6, 2023
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devicesRachel S Carling, Zoe Barclay, Nathan Cantley, et al.
JIMD Reports|November 6, 2023
No evidence for systemic low-grade inflammation in adult patients with early-treated phenylketonuria: The INGRAPH studyChloé Giret, Yann Dos Santos, Hélène Blasco, et al.
JIMD Reports|November 6, 2023
A case of hyperlysinemia identified by urine newborn screeningMehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, et al.
JIMD Reports|September 13, 2023
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiencyParith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, et al.
Pageof 127

Showing results (341-350 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|March 14, 2022
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomicsLucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, et al.
JIMD Reports|March 14, 2022
A novel variant of fructose-1,6-bisphosphatase gene identified in an adult with newly diagnosed hepatitis CHelena Fawdry, Rebecca Gorrigan, Radha Ramachandran, et al.
JIMD Reports|March 14, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid regionÁlvaro Martín-Rivada, Laura Palomino Pérez, Pedro Ruiz-Sala, et al.
JIMD Reports|May 14, 2018
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with NitisinoneA S Davison, B P Norman, E A Smith, et al.
JIMD Reports|November 6, 2023
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, et al.
JIMD Reports|November 6, 2023
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature reviewAngela Lee, Renatta Knox, Margaret Reynolds, et al.
JIMD Reports|November 6, 2023
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devicesRachel S Carling, Zoe Barclay, Nathan Cantley, et al.
JIMD Reports|November 6, 2023
No evidence for systemic low-grade inflammation in adult patients with early-treated phenylketonuria: The INGRAPH studyChloé Giret, Yann Dos Santos, Hélène Blasco, et al.
JIMD Reports|November 6, 2023
A case of hyperlysinemia identified by urine newborn screeningMehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, et al.
JIMD Reports|September 13, 2023
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiencyParith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, et al.
Pageof 127