Esmeralda Martins - Concepedia

Author

Esmeralda Martins

Also Known As

E Martins, E. G. Martins, E. J. C. C. Martins, E. Martins, E.G. Martins, EDUARDO CIEKOSKI MARTINS, ERIKA MEIRE DOS SANTOS MARTINS, Edimara Araújo dos Santos Martins, Edmundo Duarte Martins, Edson Agnaldo Martins

185

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

Centro Hospitalar do Porto Universidade do Porto Hospital Maria Pia Centro de Genética Clínica Hospital de São João

About

Esmeralda Martins is an author at Centro Hospitalar do Porto specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	29	864
2	Health Sciences	2	2	122
3	Biochemistry	2	2	70
4	Public Health	1	1	15
5	Social Sciences	1	1	19

Esmeralda Martins

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
Clinical presentation and outcome in a series of 88 patients with the cblC defect Sabine Fischer, Martina Huemer, Matthias R. Baumgartner, Journal of Inherited Metabolic Disease	2014	165
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type Célia Nogueira, Chiara Aiello, R. Cerone, Molecular Genetics and Metabolism Cblc TypeMendelian DisorderGenetic DisorderMedicineGenetics	2008	109
MAN1B1 Deficiency: An Unexpected CDG-II Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón, PLoS Genetics Metabolic DisorderGeneticsGlycobiologyPathologyMolecular Genetics	2013	87
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry Martina Huemer, Daria Diodato, Diego Martinelli, Journal of Inherited Metabolic Disease	2019	73
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients Hana Pavlú-Pereira, Maria João Silva, Cristina Florindo, Orphanet Journal of Rare Diseases	2020	43
Outcome of three cases of untreated maternal glutaric aciduria type I Paula Garcia, Esmeralda Martins, Luísa Diogo, European Journal of Pediatrics UrologyIga GlomerulonephritisGynecologyMaternal HealthMedicine	2007	42
Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients M. Barbosa, António Lopes, Conceição Mota, Clinical Genetics Slc3a1 GeneMolecular CharacterizationUrologyRenal FunctionType B	2011	42
Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source Alex Pinto, Manuela Almeida, Paula Cristina Ramos, European Journal of Clinical Nutrition NutritionUrologyRenal FunctionNutrient PhysiologyBiochemistry	2017	42
Glycogen storage disease type IV presenting as hydrops fetalis Analucía A. Alegría, Esmeralda Martins, Maria Vitória Ferreira Dias, Journal of Inherited Metabolic Disease PathogenesisFetal MedicineGynecologyPathologyPrenatal Diagnosis	1999	40
SLC35A2-CDG: Novel variant and review Dulce Quelhas, Joana Correia, Jaak Jaeken, Molecular Genetics and Metabolism Reports	2021	39

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