Norma Spécola - Concepedia

Author

Norma Spécola

Also Known As

N Specola, N. (a) Specola, N. B. Specola, N. Specola, Norberto Guelbert, Norma Specola, Norma B. Spécola, Norma Specola, Norma Spécola, Norma Spécola

Publications

Citations

H-Index

Concepts

All Affiliations

Inserm University of Chile Hospital Italiano La Plata Hospital de Clínicas de Porto Alegre Consejo Nacional de Investigaciones Científicas y Técnicas

About

Norma Spécola is an author at Inserm specializing in medicine, pediatrics, and metabolism.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	398
2	Health Sciences	1	1	19
3	Public Health	1	1	339
4	Biochemistry	1	1	41
5	Endocrinology	1	1	19

Norma Spécola

Publications

843

Citations

H-Index

Page 1

	Year	Citations
The Genetic Landscape and Epidemiology of Phenylketonuria Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, The American Journal of Human Genetics Genetic LandscapeGenetic DisorderMedicineGeneticsGenetic Epidemiology	2020	339
The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states Jean‐Paul Bonnefont, Norma Spécola, Anne Vassault, European Journal of Pediatrics Fasting TestPathological Hypo-DiagnosisPediatricsHyperketotic States	1990	167
Clinical approach to inherited metabolic diseases in the neonatal period: A 20‐year survey J. M. Saudubray, H. Ogier, Jean‐Paul Bonnefont, Journal of Inherited Metabolic Disease	1989	63
The juvenile and chronic forms of GM <sub>2</sub> gangliosidosis Norma Spécola, M. T. Vanier, Françoise Goutières, Neurology	1990	45
Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis José E. Abdenur, N. G. G. M. Abeling, Norma Spécola, Molecular Genetics and Metabolism Organic Acid AnalysisBiochemistryInherited Metabolic DiseaseAdditional FindingsPediatrics	2005	41
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world Charles Marques Lourenço, André Luiz Santos Pessoa, Carmen Curiati Mendes, Journal of Paediatrics and Child Health	2020	25
Secondary bilateral synchrony in unilateral pial angiomatosis: successful surgical treatment. J. J. Chevrie, Norma Spécola, Jean Aicardi Journal of Neurology Neurosurgery & Psychiatry Surgical RemovalNeurologyNeuroscienceUnilateral Pial AngiomatosisBrain Lesion	1988	24
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years Leila Cohen, Analisa Manín, Nancy Medina, Annals of Human Genetics	2019	20
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America Belén Pérez, Celia J. Angaroni, Rocío Sánchez-Alcudia, Journal of Inherited Metabolic Disease	2010	19
Hyperargininemia: a treatable inborn error of metabolism? Peter Paul De Deyn, Bart Marescau, Insaf Ahmed Qureshi, Metabolic SyndromeMetabolic DisorderPhysiologyTreatable Inborn ErrorPediatrics	1997	19

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