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The Journal of Pediatrics
|
February 13, 2021
Health Outcomes of Infants with Vitamin B<sub>12</sub> Deficiency Identified by Newborn Screening and Early Treated
Ulrike Mütze, Magdalena Walter, Mareike Keller, et al.
Journal of Inherited Metabolic Disease
|
October 14, 2017
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi-Vici, et al.
JIMD Reports
|
September 9, 2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
Carla Carducci, Wajdi Amayreh, Haneen Ababneh, et al.
The Lancet. Diabetes & Endocrinology
|
August 27, 2017
Issues with European guidelines for phenylketonuria
Peter Burgard, Kurt Ullrich, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2024
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
Elena Schnabel-Besson, Sven F Garbade, Florian Gleich, et al.
Journal of Medical Genetics
|
August 11, 2017
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, et al.
American Journal of Human Genetics
|
October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organs
Marjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.
Molecular Genetics and Metabolism
|
February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
International Journal of Molecular Sciences
|
April 3, 2021
Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders
Jan H Döring, Julian Schröter, Jerome Jüngling, et al.
Page
of 39
Search research articles
Search
Showing results (281-290 of 381) with videos related to
Sort By:
Page
of 39
The Journal of Pediatrics
|
February 13, 2021
Health Outcomes of Infants with Vitamin B<sub>12</sub> Deficiency Identified by Newborn Screening and Early Treated
Ulrike Mütze, Magdalena Walter, Mareike Keller, et al.
Journal of Inherited Metabolic Disease
|
October 14, 2017
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi-Vici, et al.
JIMD Reports
|
September 9, 2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
Carla Carducci, Wajdi Amayreh, Haneen Ababneh, et al.
The Lancet. Diabetes & Endocrinology
|
August 27, 2017
Issues with European guidelines for phenylketonuria
Peter Burgard, Kurt Ullrich, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2024
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
Elena Schnabel-Besson, Sven F Garbade, Florian Gleich, et al.
Journal of Medical Genetics
|
August 11, 2017
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, et al.
American Journal of Human Genetics
|
October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organs
Marjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.
Molecular Genetics and Metabolism
|
February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
International Journal of Molecular Sciences
|
April 3, 2021
Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders
Jan H Döring, Julian Schröter, Jerome Jüngling, et al.
Page
of 39