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JIMD Reports
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May 14, 2018
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone
A 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 considerations
Rodrigo 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 review
Angela 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 devices
Rachel 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 study
Chloé Giret, Yann Dos Santos, Hélène Blasco, et al.
JIMD Reports
|
November 6, 2023
A case of hyperlysinemia identified by urine newborn screening
Mehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, et al.
JIMD Reports
|
September 13, 2023
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency
Parith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, et al.
JIMD Reports
|
September 13, 2023
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy
David G Jackson, Rebecca L Koch, Surekha Pendyal, et al.
JIMD Reports
|
July 5, 2023
Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death
Prapti Singh, Deirdre Amaro, Olugbemisola Obi, et al.
JIMD Reports
|
February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
Carolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
Page
of 127
Search research articles
Search
Showing results (41-50 of 1,268) with videos related to
Sort By:
Page
of 127
JIMD Reports
|
May 14, 2018
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone
A 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 considerations
Rodrigo 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 review
Angela 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 devices
Rachel 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 study
Chloé Giret, Yann Dos Santos, Hélène Blasco, et al.
JIMD Reports
|
November 6, 2023
A case of hyperlysinemia identified by urine newborn screening
Mehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, et al.
JIMD Reports
|
September 13, 2023
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency
Parith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, et al.
JIMD Reports
|
September 13, 2023
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy
David G Jackson, Rebecca L Koch, Surekha Pendyal, et al.
JIMD Reports
|
July 5, 2023
Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death
Prapti Singh, Deirdre Amaro, Olugbemisola Obi, et al.
JIMD Reports
|
February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
Carolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
Page
of 127