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Allan M Lund

Showing results (41-50 of 78) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 26, 2016
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisisCarmen Diez-Fernandez, Véronique Rüfenacht, Saikat Santra, et al.
Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.
Advances in Therapy|May 19, 2019
Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial HypercholesterolaemiaTawfeg Ben-Omran, Luis Masana, Genovefa Kolovou, et al.
Advances in Therapy|February 20, 2024
Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial HypercholesterolaemiaTawfeg Ben-Omran, Luis Masana, Genovefa Kolovou, et al.
Developmental Medicine and Child Neurology|January 26, 2022
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort studyAllan Bayat, Angel Aledo-Serrano, Antonio Gil-Nagel, et al.
American Journal of Medical Genetics. Part A|March 21, 2014
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspectsMaría Valencia, Jose A Caparrós-Martin, María Salomé Sirerol-Piquer, et al.
Plos One|January 11, 2022
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice modelKirsten K Ahring, Frederik Dagnæs-Hansen, Annemarie Brüel, et al.
Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.
Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
Pageof 8

Showing results (41-50 of 78) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 26, 2016
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisisCarmen Diez-Fernandez, Véronique Rüfenacht, Saikat Santra, et al.
Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.
Advances in Therapy|May 19, 2019
Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial HypercholesterolaemiaTawfeg Ben-Omran, Luis Masana, Genovefa Kolovou, et al.
Advances in Therapy|February 20, 2024
Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial HypercholesterolaemiaTawfeg Ben-Omran, Luis Masana, Genovefa Kolovou, et al.
Developmental Medicine and Child Neurology|January 26, 2022
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort studyAllan Bayat, Angel Aledo-Serrano, Antonio Gil-Nagel, et al.
American Journal of Medical Genetics. Part A|March 21, 2014
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspectsMaría Valencia, Jose A Caparrós-Martin, María Salomé Sirerol-Piquer, et al.
Plos One|January 11, 2022
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice modelKirsten K Ahring, Frederik Dagnæs-Hansen, Annemarie Brüel, et al.
Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.
Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
Pageof 8