Search research articles
Contact Us
Filters
Showing results (801-810 of 1,250) with videos related to
Page
of 125
Sort By:
JIMD Reports
|
January 14, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
Ivan Shelihan, Elsa Rossignol, Jean-Claude Décarie, et al.
JIMD Reports
|
January 14, 2022
Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis
Maria Helena Vaisbich, Juliana Caires Ferreira, Heather Price, et al.
JIMD Reports
|
September 14, 2022
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome
Mahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, et al.
JIMD Reports
|
September 14, 2022
Glycogen storage disease type 1a in the Ohio Amish
Ethan M Scott, Olivia K Wenger, Elizabeth Robinson, et al.
JIMD Reports
|
September 14, 2022
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, et al.
JIMD Reports
|
September 14, 2022
Dental manifestations in adult hypophosphatasia and their correlation with biomarkers
Priya Sinha, Rachel Gabor, Rachael Haupt-Harrington, et al.
JIMD Reports
|
September 14, 2022
Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease
Kathleen D Valverde, Elizabeth M McCormick, Marni J Falk
JIMD Reports
|
April 18, 2022
Glycogen storage disease type IIIa in pregnant women: A guide to management
Demi Beneru, Michel C Tchan, Kate Billmore, et al.
JIMD Reports
|
October 13, 2018
The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism
Colin P Hawkes, Juan J Lado, Stephanie Givler, et al.
JIMD Reports
|
March 14, 2022
The development of end stage renal disease in two patients with PMM2-CDG
Henna Tiwary, Leah E Hecht, William J Brucker, et al.
Page
of 125
Search research articles
Search
Showing results (801-810 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
January 14, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
Ivan Shelihan, Elsa Rossignol, Jean-Claude Décarie, et al.
JIMD Reports
|
January 14, 2022
Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis
Maria Helena Vaisbich, Juliana Caires Ferreira, Heather Price, et al.
JIMD Reports
|
September 14, 2022
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome
Mahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, et al.
JIMD Reports
|
September 14, 2022
Glycogen storage disease type 1a in the Ohio Amish
Ethan M Scott, Olivia K Wenger, Elizabeth Robinson, et al.
JIMD Reports
|
September 14, 2022
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, et al.
JIMD Reports
|
September 14, 2022
Dental manifestations in adult hypophosphatasia and their correlation with biomarkers
Priya Sinha, Rachel Gabor, Rachael Haupt-Harrington, et al.
JIMD Reports
|
September 14, 2022
Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease
Kathleen D Valverde, Elizabeth M McCormick, Marni J Falk
JIMD Reports
|
April 18, 2022
Glycogen storage disease type IIIa in pregnant women: A guide to management
Demi Beneru, Michel C Tchan, Kate Billmore, et al.
JIMD Reports
|
October 13, 2018
The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism
Colin P Hawkes, Juan J Lado, Stephanie Givler, et al.
JIMD Reports
|
March 14, 2022
The development of end stage renal disease in two patients with PMM2-CDG
Henna Tiwary, Leah E Hecht, William J Brucker, et al.
Page
of 125