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JIMD reports

Showing results (281-290 of 1,270) with videos related to

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JIMD Reports|March 6, 2024
Correction to "Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant"
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports|July 8, 2024
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarkerPreeya Rehsi, Karolina Witek, Erin Emmett, et al.
JIMD Reports|July 8, 2024
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemiaLinley Mangini, Roger Lawrence, Manuel E Lopez, et al.
JIMD Reports|July 8, 2024
Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patientsMark A Keibler, Gautham V Sridharan, Marianne T Sweetser, et al.
JIMD Reports|May 14, 2025
Atypical Presentation of <i>IARS1</i>-Related Disorder: Expanding the Phenotype and GenotypeParith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, et al.
JIMD Reports|April 7, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in JapanNobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada
JIMD Reports|April 21, 2025
Self-Reported Liver Disease and the Burden of Erythropoietic ProtoporphyriaHetanshi Naik, Kristen Wheeden, Hilary H Colwell, et al.
JIMD Reports|April 7, 2025
Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case ReportTomoki Saito, Kento Soma, Mai Kashisaka, et al.
JIMD Reports|March 13, 2025
An atypical presentation in a child with propionic acidemia? Better think twice!Tim Burkhardt, Katharine L Kastor, Stine Christ, et al.
Pageof 127

Showing results (281-290 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|March 6, 2024
Correction to "Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant"
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports|July 8, 2024
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarkerPreeya Rehsi, Karolina Witek, Erin Emmett, et al.
JIMD Reports|July 8, 2024
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemiaLinley Mangini, Roger Lawrence, Manuel E Lopez, et al.
JIMD Reports|July 8, 2024
Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patientsMark A Keibler, Gautham V Sridharan, Marianne T Sweetser, et al.
JIMD Reports|May 14, 2025
Atypical Presentation of <i>IARS1</i>-Related Disorder: Expanding the Phenotype and GenotypeParith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, et al.
JIMD Reports|April 7, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in JapanNobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada
JIMD Reports|April 21, 2025
Self-Reported Liver Disease and the Burden of Erythropoietic ProtoporphyriaHetanshi Naik, Kristen Wheeden, Hilary H Colwell, et al.
JIMD Reports|April 7, 2025
Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case ReportTomoki Saito, Kento Soma, Mai Kashisaka, et al.
JIMD Reports|March 13, 2025
An atypical presentation in a child with propionic acidemia? Better think twice!Tim Burkhardt, Katharine L Kastor, Stine Christ, et al.
Pageof 127