Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Hopkin, R. J., Feldt-Rasmussen, U., Germain, D. P., Jovanovic, A., Martins, A. M., Nicholls, K., Ortiz, A., Politei, J., Ponce, E., Varas, C., Weidemann, F., Yang, M. & Wilcox, W. R., dec. 2020, I : Molecular Genetics and Metabolism Reports. 25, s. 100670

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

The impact of consanguinity on the frequency of inborn errors of metabolism

Afzal, R. M., Lund, A. M. & Skovby, F., jun. 2018, I : Molecular Genetics and Metabolism Reports. 15, s. 6-10 5 s.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Correspondence to: "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency" and "A novel NDUFA1 mutation leads to progressive mitochondrial complex I- specific neurodegenerative disease"

Xu, J. J. & Østergaard, E., dec. 2017, I : Molecular Genetics and Metabolism Reports. 13, s. 30

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

Rasmussen, J., Lund, A. M., Risom, L., Wibrand, F., Gislason, H., Wendelboe Nielsen, O., Køber, L. & Dunø, M., 22 maj 2015, I : Molecular Genetics and Metabolism Reports. 1, s. 241-248

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

When should social service referral be considered in phenylketonuria?

van Rijn, M., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A. M., Robert, M., Rocha, J. C. & MacDonald, A., mar. 2015, I : Molecular Genetics and Metabolism Reports. 2, s. 85-88

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Ravn, K., Schönewolf-Greulich, B., Hansen, R. M., Bohr, A-H., Dunø, M., Wibrand, F. & Østergaard, E., 2015, I : Molecular Genetics and Metabolism Reports. 3, s. 5-10

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey

Gokmen Ozel, H., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Lammardo, A. M., Robert, M., Rocha, J. C., Almeida, M. F., van Rijn, M. & MacDonald, A., 2014, I : Molecular Genetics and Metabolism Reports. s. 483-486

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Formidling