Birutė Burnytė

The natural history of classic galactosemia: lessons from the GalNet registry

M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch et al. · Orphanet Journal of Rare Diseases · 2019 · 148 citations · Full text

Medicine, Endocrinology, Pediatrics +16

Two mutations in <i>IFITM5</i> causing distinct forms of osteogenesis imperfecta

Encarna Guillén‐Navarro, María Juliana Ballesta‐Martínez, Ana M. Bueno et al. · American Journal of Medical Genetics Part A · 2014 · 46 citations

Medicine, Genetics, Molecular Genetics +14

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

Marc Vila Cuenca, Giacomo Marchi, Anna Barqué et al. · International Journal of Molecular Sciences · 2020 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic landscape of pediatric acute liver failure of indeterminate origin

Dominic Lenz, Lea D. Schlieben, Masaru Shimura et al. · Hepatology · 2023 · 31 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff et al. · Cell · 2024 · 27 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17