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Rigshospitalet - a part of Copenhagen University Hospital
Published

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  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?

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleCommunication

  1. Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Danish expanded newborn screening is a successful preventive public health programme

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Phenotypic variability in Muenke syndrome-observations from five Danish families

    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