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Stephanie Grunewald

Showing results (51-60 of 59) with videos related to

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Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.
Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.
Brain : a Journal of Neurology|February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
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Showing results (51-60 of 59) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 59 results.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.
Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.
Brain : a Journal of Neurology|February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Pageof 6