Nuria García Segarra

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Sebene Mayorandan, Uta Meyer, Gülden Gökçay et al. · Orphanet Journal of Rare Diseases · 2014 · 135 citations · Full text

Medicine, Internal Medicine, Nutrition +17

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Nuria García Segarra, Diana Ballhausen, Heather Crawford et al. · American Journal of Medical Genetics Part A · 2015 · 76 citations · Full text

Medicine, Immunology, Molecular Genetics +15

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Nuria García Segarra, Ivan Gautschi, Lauréane Mittaz‐Crettol et al. · Journal of the Neurological Sciences · 2014 · 54 citations

Life Sciences, Neurology, Neuroscience +17

Long-term liver disease in methylmalonic and propionic acidemias

Apolline Imbard, Nuria García Segarra, M. Tardieu et al. · Molecular Genetics and Metabolism · 2018 · 30 citations

Medicine, Internal Medicine, Pathology +13

Maternal and fetal tyrosinemia type I

Nuria García Segarra, Sophie Roche, Apolline Imbard et al. · Journal of Inherited Metabolic Disease · 2010 · 27 citations

Public Health, Maternal Health, Obstetrics +11