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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Research output: Contribution to journalJournal articleResearchpeer-review

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

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. When should social service referral be considered in phenylketonuria?

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

    Research output: Contribution to journalJournal articleCommunication

  1. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

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  3. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

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  4. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
JournalMolecular Genetics and Metabolism Reports
Volume3
Pages (from-to)5-10
DOIs
Publication statusPublished - 2015

ID: 45888684