Molecular Genetics and Metabolism Reports, 2214-4269
Tidsskrift
- 2022
- Udgivet
Hearing loss in fabry disease: A 16 year follow-up study of the Danish nationwide cohort
Yazdanfard, P. D. W., Effraimidis, G., Madsen, C. V., Nielsen, L. H., Rasmussen, Å. K., Petersen, J. H., Sørensen, S. S., Køber, L., de Abreu, V. H. F., Larsen, V. A. & Feldt-Rasmussen, U., 2022, I: Molecular Genetics and Metabolism Reports. 31, s. 100841 100841.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- 2021
- Udgivet
Case report: ‘AARS2 leukodystrophy’
Axelsen, T. M., Vammen, T. L., Bak, M., Pourhadi, N., Stenør, C. M. & Grønborg, S., sep. 2021, I: Molecular Genetics and Metabolism Reports. 28, 100782.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- Udgivet
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
Bichet, D. G., Torra, R., Wallace, E., Hughes, D., Giugliani, R., Skuban, N., Krusinska, E., Feldt-Rasmussen, U., Schiffmann, R. & Nicholls, K., sep. 2021, I: Molecular Genetics and Metabolism Reports. 28, s. 100786 100786.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- 2020
- Udgivet
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. 100670Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- Udgivet
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Phillips, D., Hennermann, J. B., Tylki-Szymanska, A., Borgwardt, L., Gil-Campos, M., Guffon, N., Amraoui, Y., Geraci, S., Ardigò, D., Cattaneo, F. & Lund, A. M., jun. 2020, I: Molecular Genetics and Metabolism Reports. 23, s. 100586Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- 2018
- Udgivet
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
- 2017
- Udgivet
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. 30Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- 2015
- Udgivet
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 8 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- Udgivet
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. 85-88Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- Udgivet
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. 5-10Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
- 2014
- Udgivet
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. 483-486Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Formidling
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