Carla Valongo - Concepedia

Author

Carla Valongo

National Institute of Health Dr. Ricardo Jorge ORCID

Also Known As

C Valongo, C. Valongo, Carla Valongo

Publications

445

Citations

H-Index

Concepts

All Affiliations

National Institute of Health Dr. Ricardo Jorge Centro de Genética Clínica Hospitais da Universidade de Coimbra Amsterdam UMC Location Vrije Universiteit Amsterdam Universidade do Porto

About

Carla Valongo is an author at National Institute of Health Dr. Ricardo Jorge specializing in medicine, inherited metabolic disease, and physiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	213
2	Biochemistry	1	1	135
3	Biology	1	1	47
4	Clinical Nutrition	1	1	43
5	Medical Laboratory Science	1	1	23

Carla Valongo

Publications

437

Citations

H-Index

Page 1

	Year	Citations
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Journal of Medical Genetics	2013	159
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport Lígia S. Almeida, Nanda M. Verhoeven, Birthe Roos, Molecular Genetics and Metabolism BiosynthesisCreatine BiosynthesisInborn ErrorsBiochemistryPhysiology	2004	135
Cytometric, morphologic and enzymatic characterisation of haemocytes in Anodonta cygnea I.M. Soares-da-Silva, José A. Ribeiro, Carla Valongo, Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology BiologyAnodonta CygneaPhysiology	2002	47
Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography–mass spectrometry Carla Valongo, Maria Luı́s Cardoso, Pedro Domíngues, Clinica Chimica Acta Gas Chromatography–mass SpectrometryNutritionClinical NutritionPediatricsPediatric Gastroenterology	2004	43
Molecular picture of cobalamin C/D defects before and after newborn screening era Célia Nogueira, Ana Marcão, Hugo Rocha, Journal of Medical Screening GeneticsNewborn Screening EraHuman PolymorphismGenetic EpidemiologyPathology	2016	23
A Novel <i>SUCLA2</i> Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria Célia Nogueira, Maria Chiara Meschini, Claudia Nesti, Journal of Child Neurology	2014	18
Phenotypic Variability in a Portuguese Family With X-Linked Creatine Transport Deficiency Paula Garcia, Fidjy Rodrigues, Carla Valongo, Pediatric Neurology Portuguese FamilyGeneticsPhysiologyInherited Metabolic DiseasePhenotypic Variability	2011	12

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