Concepedia

Author

Alberto Burlina

University of Padua

Also Known As

A Burlina, A. Burlina, Alberto Burlina, Anais Brassier, Burlina, Alberto, Roberta Battini, alberto burlina

55

Publications

2K

Citations

16

H-Index

42

Concepts

All Affiliations

University of PaduaAzienda Ospedale - Università PadovaUniversity Hospital HeidelbergHeidelberg UniversityRadboud University Nijmegen
AB

About

Alberto Burlina is an author at University of Padua specializing in medicine, pathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

9

9

227

2

Public Health

1

1

16

3

Allergy

1

1

14

4

Anesthesia

1

1

14

5

Biochemistry

1

1

15

Alberto Burlina

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16

Publications

827

Citations

14

H-Index

YearCitations

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng,

Neurology

2010

219

One Liver for Four Children: First Clinical Series of Liver Cell Transplantation for Severe Neonatal Urea Cycle Defects

Jochen Meyburg, Anibh M. Das, Friederike Hoerster,

Transplantation

2009

160

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Patricia Jumbo‐Lucioni, Kathryn B. Garber, John Kiel,

Journal of Inherited Metabolic Disease

2012

87

Lactic acid levels in children perinatally treated with antiretroviral agents to prevent HIV transmission

Carlo Giaquinto, Antonia De Romeo, Vania Giacomet,

AIDS

2001

52

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

María Andrea Desbats, Annalisa Vetro, Ivan Limongelli,

European Journal of Human Genetics

2015

49

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

Peter van Hasselt, Ivo Barić, Alberto Burlina,

Neuropediatrics

2015

39

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Oya Kuseyri Hübschmann, Gabriella Horváth, Elisenda Cortès‐Saladelafont,

Nature Communications

2021

37

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

Eva Trevisson, Alberto Burlina, Mara Doimo,

Journal of Biological Chemistry

2009

34

Functional Analysis of Missense Mutations of<i>OAT</i>, Causing Gyrate Atrophy of Choroid and Retina

Mara Doimo, María Andrea Desbats, Maria Cristina Baldoin,

Human Mutation

2012

29

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience

Alberto Burlina

Molecular Genetics and Metabolism

2021

26

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