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The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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"

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. Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleCommunication

  1. Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
JournalMolecular Genetics and Metabolism Reports
Volume13
Pages (from-to)30
ISSN2214-4269
DOIs
Publication statusPublished - Dec 2017

ID: 56084147