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Journal of Inherited Metabolic Disease
|
December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
Veronika Holubova, Rita Barone, Stephanie Grunewald, et al.
International Journal of Molecular Sciences
|
February 23, 2018
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Parkinsonism & Related Disorders
|
October 21, 2018
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
Alejandra Darling, Sergio Aguilera-Albesa, Cristina Aisha Tello, et al.
Pediatric Neurology
|
April 3, 2024
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Jair Tenorio, Pablo Alarcón, Pedro Arias, et al.
Clinical Genetics
|
December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Clinical Genetics
|
January 18, 2019
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Celia Medrano, Ana Vega, Rosa Navarrete, et al.
Frontiers in Genetics
|
May 2, 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 107) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
Veronika Holubova, Rita Barone, Stephanie Grunewald, et al.
International Journal of Molecular Sciences
|
February 23, 2018
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Parkinsonism & Related Disorders
|
October 21, 2018
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
Alejandra Darling, Sergio Aguilera-Albesa, Cristina Aisha Tello, et al.
Pediatric Neurology
|
April 3, 2024
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Jair Tenorio, Pablo Alarcón, Pedro Arias, et al.
Clinical Genetics
|
December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Clinical Genetics
|
January 18, 2019
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Celia Medrano, Ana Vega, Rosa Navarrete, et al.
Frontiers in Genetics
|
May 2, 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, et al.
Page
of 11