Grünewald, Stéphanie

Top Publications

Top Publications Authored or Co-Authored by "Grünewald, Stéphanie"

• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

  Annals of Neurology, Volume 82, No. 6, Year 2017, Citations 58
• Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

  Journal of Inherited Metabolic Disease, Volume 43, No. 6, Year 2020, Citations 53
• Expanding the phenotype in argininosuccinic aciduria: need for new therapies

  Journal of Inherited Metabolic Disease, Volume 40, No. 3, Year 2017, Citations 26
• Urea cycle related amino acids measured in dried bloodspots enable long-term in vivo monitoring and therapeutic adjustment

  Metabolites, Volume 9, No. 11, Article 275, Year 2019, Citations 11