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Molecular Genetics and Metabolism
|
September 2, 2014
Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?
Urh Groselj, Mojca Zerjav Tansek, Tadej Battelino
International Journal of Environmental Research and Public Health
|
December 10, 2021
Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach
Dalibor Stanimirovic, Eva Murko, Tadej Battelino, et al.
Endocrine Development
|
November 8, 2007
Management of neonatal and infancy-onset diabetes mellitus
Oddmund Søvik, Mojca Zerjav Tansek, Jørn V Sagen, et al.
The Journal of International Medical Research
|
August 12, 2020
A patient with glycogen storage disease type 0 and a novel sequence variant in <i>GYS2</i>: a case report and literature review
Janez Jan Arko, Marusa Debeljak, Mojca Zerjav Tansek, et al.
Molecular Genetics and Metabolism
|
August 25, 2012
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population
Mojca Zerjav Tansek, Urh Groselj, Simona Murko, et al.
Molecular Genetics and Metabolism
|
April 20, 2012
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene
Urh Groselj, Mojca Zerjav Tansek, Jernej Kovac, et al.
Biochemia Medica
|
June 26, 2015
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)
Barbka Repic Lampret, Simona Murko, Marusa Debeljak, et al.
Pediatric Endocrinology Reviews : PER
|
January 31, 2006
The use of continuous subcutaneous insulin infusion (CSII) as the treatment of choice in children and adolescents with type 1 diabetes
Tadej Battelino, Natasa Ursic-Bratina, Nina Bratanic, et al.
Data in Brief
|
February 24, 2022
Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH<sub>4</sub>)-responsiveness in patients with hyperphenylalaninemia
Barbka Repic Lampret, Mojca Zerjav Tansek, Blaz Groselj, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 25, 2016
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios
Mojca Zerjav Tansek, Urh Groselj, Matic Kelvisar, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 38) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Metabolism
|
September 2, 2014
Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?
Urh Groselj, Mojca Zerjav Tansek, Tadej Battelino
International Journal of Environmental Research and Public Health
|
December 10, 2021
Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach
Dalibor Stanimirovic, Eva Murko, Tadej Battelino, et al.
Endocrine Development
|
November 8, 2007
Management of neonatal and infancy-onset diabetes mellitus
Oddmund Søvik, Mojca Zerjav Tansek, Jørn V Sagen, et al.
The Journal of International Medical Research
|
August 12, 2020
A patient with glycogen storage disease type 0 and a novel sequence variant in <i>GYS2</i>: a case report and literature review
Janez Jan Arko, Marusa Debeljak, Mojca Zerjav Tansek, et al.
Molecular Genetics and Metabolism
|
August 25, 2012
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population
Mojca Zerjav Tansek, Urh Groselj, Simona Murko, et al.
Molecular Genetics and Metabolism
|
April 20, 2012
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene
Urh Groselj, Mojca Zerjav Tansek, Jernej Kovac, et al.
Biochemia Medica
|
June 26, 2015
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)
Barbka Repic Lampret, Simona Murko, Marusa Debeljak, et al.
Pediatric Endocrinology Reviews : PER
|
January 31, 2006
The use of continuous subcutaneous insulin infusion (CSII) as the treatment of choice in children and adolescents with type 1 diabetes
Tadej Battelino, Natasa Ursic-Bratina, Nina Bratanic, et al.
Data in Brief
|
February 24, 2022
Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH<sub>4</sub>)-responsiveness in patients with hyperphenylalaninemia
Barbka Repic Lampret, Mojca Zerjav Tansek, Blaz Groselj, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 25, 2016
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios
Mojca Zerjav Tansek, Urh Groselj, Matic Kelvisar, et al.
Page
of 4