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Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
October 24, 2019
Pyruvate dehydrogenase deficiency
Sigrid Pedersen, Yngve Thomas Bliksrud, Kaja Kristine Selmer, et al.
JIMD Reports
|
September 13, 2023
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
Trine Tangeraas, Erle Kristensen, Lars Mørkrid, et al.
JIMD Reports
|
October 19, 2013
High dietary folic Acid and high plasma folate in children and adults with phenylketonuria
Linn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, et al.
Biochimica Et Biophysica Acta. Bioenergetics
|
March 11, 2025
Identification of determinants for variability in mitochondrial biochemical complex activities
Sandra Monica Bach de Courtade, Marte Eikenes, Ying Sheng, et al.
Frontiers in Psychiatry
|
August 3, 2023
Case report: ADHD and prognosis in tyrosinemia type 1
Helene Barone, Irene Bircow Elgen, Yngve Thomas Bliksrud, et al.
Molecular Genetics and Metabolism
|
July 30, 2023
Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation
Cathrin Lytomt Salvador, Per Trygge Kjelland Flemmen, Camilla Tøndel, et al.
JIMD Reports
|
April 18, 2022
Novel mutations in the <i>HADHB</i> gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, et al.
Journal of Lipid Research
|
November 20, 2024
A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome
Alexander Bauer Westbye, Lili L Dizdarevic, Sandra R Dahl, et al.
Molecular Genetics and Metabolism
|
November 11, 2017
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
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Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
October 24, 2019
Pyruvate dehydrogenase deficiency
Sigrid Pedersen, Yngve Thomas Bliksrud, Kaja Kristine Selmer, et al.
JIMD Reports
|
September 13, 2023
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
Trine Tangeraas, Erle Kristensen, Lars Mørkrid, et al.
JIMD Reports
|
October 19, 2013
High dietary folic Acid and high plasma folate in children and adults with phenylketonuria
Linn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, et al.
Biochimica Et Biophysica Acta. Bioenergetics
|
March 11, 2025
Identification of determinants for variability in mitochondrial biochemical complex activities
Sandra Monica Bach de Courtade, Marte Eikenes, Ying Sheng, et al.
Frontiers in Psychiatry
|
August 3, 2023
Case report: ADHD and prognosis in tyrosinemia type 1
Helene Barone, Irene Bircow Elgen, Yngve Thomas Bliksrud, et al.
Molecular Genetics and Metabolism
|
July 30, 2023
Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation
Cathrin Lytomt Salvador, Per Trygge Kjelland Flemmen, Camilla Tøndel, et al.
JIMD Reports
|
April 18, 2022
Novel mutations in the <i>HADHB</i> gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, et al.
Journal of Lipid Research
|
November 20, 2024
A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome
Alexander Bauer Westbye, Lili L Dizdarevic, Sandra R Dahl, et al.
Molecular Genetics and Metabolism
|
November 11, 2017
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
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of 2