Publicacións en colaboración con investigadores/as de University of Innsbruck (28)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

  2. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

    The Journal of experimental medicine, Vol. 221, Núm. 2

  3. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2022

  1. CovidPhy: A tool for phylogeographic analysis of SARS-CoV-2 variation

    Environmental Research, Vol. 204

  2. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

2021

  1. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135

  2. Development and evaluation of the ancestry informative marker panel of the visage basic tool

    Genes, Vol. 12, Núm. 8

  3. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2020

  1. Extraordinary claims require extraordinary evidence in asserted mtDNA biparental inheritance

    Forensic Science International: Genetics, Vol. 47

  2. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  3. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2018

  1. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)

    Journal of Inherited Metabolic Disease

  2. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)

    Journal of Inherited Metabolic Disease

  3. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2016

  1. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672

  2. Mapping human dispersals into the Horn of Africa from Arabian Ice Age refugia using mitogenomes

    Scientific Reports, Vol. 6

2015

  1. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (J Inherit Metab Dis, 10.1007/s10545-015-9839-3)

    Journal of Inherited Metabolic Disease