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Norberto Guelbert

Research Profile

Geographic Areas

Physiology

Disorders

Chemicals & Drugs

Anatomy

Mitochondrion

Procedures

Enzyme Replacement Therapy

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Publications

TOP 3
Paul Harmatz; Chris Hendriksz; Carla Hollak; Simon Jones; Shuan-Pei Lin; Ana Martins; Karl Eugen Mengel; John Mitchell; Rossella Parini; Peter Slasor; Vassili Valayannopoulos; Ashok Vellodi; Barbara K Burton; Roberto Giugliani; Norberto Guelbert; Nathalie Guffon; Celeste Decker
The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
Romina Kohan; Graciela Irene Alonso; María Noelia Carabelos; Inés Adriana Cismondi; Raquel Dodelson de Kremer; Norberto Guelbert; Ana María Oller-Ramírez; David A Pearce; Patricia Pons; Katherine Sims; Mónica Troncoso; Scarlet Witting; Winnie Xin; Ines Noher de Halac
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
R Kohan; I A Cismondi; A M Oller-Ramirez; Norberto Guelbert; Tapia V Anzolini; G Alonso; S E Mole; Dodelson R de Kremer; Noher I de Halac
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

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All Publications

2013: Paul Harmatz; Chris Hendriksz; Carla Hollak; Simon Jones; Shuan-Pei Lin; Ana Martins; Karl Eugen Mengel; John Mitchell; Rossella Parini; Peter Slasor; Vassili Valayannopoulos; Ashok Vellodi; Barbara K Burton; Roberto Giugliani; Norberto Guelbert; Nathalie Guffon; Celeste Decker
The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
Molecular genetics and metabolism 2013;109(1):54-61.
2013: Romina Kohan; Graciela Irene Alonso; María Noelia Carabelos; Inés Adriana Cismondi; Raquel Dodelson de Kremer; Norberto Guelbert; Ana María Oller-Ramírez; David A Pearce; Patricia Pons; Katherine Sims; Mónica Troncoso; Scarlet Witting; Winnie Xin; Ines Noher de Halac
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Gene 2013;516(1):114-21.
2011: R Kohan; I A Cismondi; A M Oller-Ramirez; Norberto Guelbert; Tapia V Anzolini; G Alonso; S E Mole; Dodelson R de Kremer; Noher I de Halac
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Current pharmaceutical biotechnology 2011;12(6):867-83.
2011: M B Bistué Millón; Luisa Sturiale; N B Azar; Raquel Dodelson de Kremer; M A Delgado; Domenico Garozzo; Norberto Guelbert; J Jaeken; G Matthijs; C G Asteggiano
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
JIMD reports 2011;1():65-72.
2009: R Kohan; I A Cismondi; R Dodelson Kremer; V J Muller; Norberto Guelbert; V Tapia Anzolini; M J Fietz; A M Oller Ramírez; I Noher Halac
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
Clinical genetics 2009;76(4):372-82.
2007: Laura Elena Laróvere; J P O'Neill; M Randall; L D Fairbanks; Norberto Guelbert; L Czornyj; Raquel Dodelson de Kremer
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Nucleosides, nucleotides & nucleic acids 2007;26(3):255-8.
2004: Laura Elena Laróvere; N Romero; L D Fairbanks; Cecilia B Conde; Norberto Guelbert; A L Rosa; Raquel Dodelson de Kremer
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.
Molecular genetics and metabolism 2004;81(4):352-4.
2004: Shunji Tomatsu; Tatiana Dieter; Ida V Schwartz; Piedad Sarmient; Roberto Giugliani; Luis A Barrera; Norberto Guelbert; Raquel Kremer; Gabriela M Repetto; Monica A Gutierrez; Tatsuo Nishioka; Olga Peña Serrato; Adriana Montaño; Seiji Yamaguchi; Akihiko Noguchi
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Journal of human genetics 2004;49(9):490-4.
2002: Raquel Dodelson de Kremer; Alexandra Latini; Terttu Suormala; E Regula Baumgartner; Laura Elena Laróvere; Gabriel Civallero; Norberto Guelbert; Ana Paschini-Capra; Catalina Depetris-Boldini; Carlos Quiroga Mayor
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.
Metabolic brain disease 2002;17(1):13-8.
2001: Raquel Dodelson de Kremer; Ana Paschini-Capra; S Bacman; Carlos E Argaraña; Gabriel Civallero; Richard I Kelley; Norberto Guelbert; Alexandra Latini; Inés Noher de Halac; A Giner-Ayala; J Johnston; R Proujansky; I Gonzalez; Catalina Depetris-Boldini; A Oller-Ramírez; Celia J Angaroni; R A Theaux; E Hliba; E Juaneda
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).
American journal of medical genetics 2001;99(2):83-93.