Nuria García Segarra

Author

Hôpital Robert-Debré

Also Known As

N. Garcia Segarra, Nuria Garcia Segarra, Nuria Garcia segarra, Nuria García Segarra

Publications

474

Citations

H-Index

Concepts

All Affiliations

Hôpital Robert-Debré Assistance Publique – Hôpitaux de Paris University of Lausanne University Hospital of Lausanne Inserm

About

Nuria García Segarra is an author at Hôpital Robert-Debré specializing in medicine, pathology, and hepatic disorders.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	108
2	Social Sciences	1	1	52
3	Hepatology	1	1	29
4	Metabolism	1	1	29
5	Molecular Genetics	1	1	12

Nuria García Segarra

Publications

383

Citations

H-Index

Page 1

	Year	Citations
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Sebene Mayorandan, Uta Meyer, Gülden Gökçay, Orphanet Journal of Rare Diseases	2014	135
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina Nuria García Segarra, Diana Ballhausen, Heather Crawford, American Journal of Medical Genetics Part A	2015	75
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, Journal of the Neurological Sciences Hemiplegic MigraineFunction MutationNeurophysiologyNeurologyNeuroscience	2014	52
Long-term liver disease in methylmalonic and propionic acidemias Apolline Imbard, Nuria García Segarra, M. Tardieu, Molecular Genetics and Metabolism Hepatic DisordersHepatologyLiver PhysiologyPathologyLong-term Liver Disease	2018	29
Maternal and fetal tyrosinemia type I Nuria García Segarra, Sophie Roche, Apolline Imbard, Journal of Inherited Metabolic Disease	2010	27
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias Anupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, Orphanet Journal of Rare Diseases	2018	17
Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution Anton Ivanyuk, Nuria García Segarra, Thierry Buclin, Neuromuscular Disorders MedicineDuchenne Muscular DystrophyUrologyNeuromusculoskeletal Disorder	2018	15
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo‐Graovac, Molecular Genetics and Metabolism New MutationsAllelic VariantGenetic DisorderGeneticsInherited Metabolic Disease	2016	12
Angelman syndrome and isovaleric acidemia: What is the link? Alix Lambrecht, Samia Pichard, Hélène Maurey, Molecular Genetics and Metabolism Reports	2015	11
Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients Giacomo Maria Bacci, Maria Alice Donati, Elisabetta Pasquini, Acta Ophthalmologica	2017	10

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