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Therapeutic Advances in Rare Disease
|
May 14, 2023
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
Silvia Radenkovic, Christin Johnsen, Andreas Schulze, et al.
European Journal of Pediatrics
|
May 29, 2004
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
Eva Morava, Rob Sengers, Henk Ter Laak, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 29, 2014
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature
David F G J Wolthuis, Ellyze van Asbeck, Miski Mohamed, et al.
Molecular Genetics and Metabolism
|
September 14, 2023
Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data
Hannah Barman, Vanja Sikirica, Katherine Carlson, et al.
Orphanet Journal of Rare Diseases
|
February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Peter Witters, Andrew C Edmondson, Christina Lam, 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.
Clinical Dysmorphology
|
February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2022
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature
Shawn Tahata, Kimiyo Raymond, Marie Quade, et al.
Molecular Genetics and Metabolism
|
March 25, 2023
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation
Shawn Tahata, Jody Weckwerth, Anna Ligezka, et al.
Pediatrics
|
July 2, 2014
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG
Mirian C H Janssen, Ruben H de Kleine, Arie P van den Berg, et al.
Page
of 36
Search research articles
Search
Showing results (171-180 of 355) with videos related to
Sort By:
Page
of 36
Therapeutic Advances in Rare Disease
|
May 14, 2023
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
Silvia Radenkovic, Christin Johnsen, Andreas Schulze, et al.
European Journal of Pediatrics
|
May 29, 2004
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
Eva Morava, Rob Sengers, Henk Ter Laak, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 29, 2014
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature
David F G J Wolthuis, Ellyze van Asbeck, Miski Mohamed, et al.
Molecular Genetics and Metabolism
|
September 14, 2023
Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data
Hannah Barman, Vanja Sikirica, Katherine Carlson, et al.
Orphanet Journal of Rare Diseases
|
February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Peter Witters, Andrew C Edmondson, Christina Lam, 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.
Clinical Dysmorphology
|
February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2022
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature
Shawn Tahata, Kimiyo Raymond, Marie Quade, et al.
Molecular Genetics and Metabolism
|
March 25, 2023
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation
Shawn Tahata, Jody Weckwerth, Anna Ligezka, et al.
Pediatrics
|
July 2, 2014
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG
Mirian C H Janssen, Ruben H de Kleine, Arie P van den Berg, et al.
Page
of 36