N. Guelbert
发表
A. Pessoa,
M. Troncoso,
N.I. Mancilla,
2020
.
S. Mole,
R. Kremer,
N. Guelbert,
2011,
Current pharmaceutical biotechnology.
H. Jinnah,
L. Fairbanks,
L. Laróvere,
2021,
Journal of Inborn Errors of Metabolism and Screening.
A. Rosa,
L. Fairbanks,
L. Laróvere,
2004,
Molecular genetics and metabolism.
J. O’Neill,
L. Fairbanks,
L. Laróvere,
2007,
Nucleosides, nucleotides & nucleic acids.
M. Pujol,
A. Schenone,
L. Feldman,
2016,
American journal of hematology.
I. Scheffer,
J. Mink,
S. Berkovic,
2020,
Orphanet Journal of Rare Diseases.
G. Matthijs,
D. Garozzo,
J. Jaeken,
2011,
JIMD reports.
John J. Mitchell,
P. Lu,
J. Medin,
2017,
Biochimica et biophysica acta. Molecular basis of disease.
John J. Mitchell,
Robert A. Matousek,
B. Burton,
2017,
Molecular genetics and metabolism.
J. Mink,
E. Wirrell,
M. Topcu,
2021,
Pediatric neurology.
C. Hollak,
R. Lachmann,
T. Ikezoe,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
John J. Mitchell,
P. Slasor,
B. Burton,
2015,
Molecular genetics and metabolism.
J. A. Arranz,
J. Häberle,
C. Angaroni,
2019,
Orphanet Journal of Rare Diseases.
C. Angaroni,
R. Kremer,
N. Guelbert,
2010,
Journal of Inherited Metabolic Disease.
T. Suormala,
E. R. Baumgartner,
A. Latini,
2002,
Metabolic Brain Disease.
Ana Martins,
R. Giugliani,
A. Acosta,
2014,
Genetics and molecular biology.
A. Paul,
N. Guelbert,
I. A. Cismondi,
2021
.
“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era
E. Fernández,
A. D. De Paul,
N. Guelbert,
2021
.
A. D. De Paul,
Elmer A Fernández,
N. Guelbert,
2022,
Frontiers in Neurology.
K. Sims,
W. Xin,
I. Noher de Halac,
2015,
Biochimica et biophysica acta.
G. Repetto,
R. Giugliani,
S. Yamaguchi,
2004,
Journal of Human Genetics.
C. Phornphutkul,
C. Goizet,
D. Barbouth,
2015,
Orphanet Journal of Rare Diseases.
S. Kapoor,
C. Ferreira,
S. Ozen,
2020,
Human mutation.
A. Schenone,
L. Feldman,
M. Rapetti,
2016,
Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.
R. Dodelson de Kremer,
C. Asteggiano,
Marcela Pereyra,
2018,
Pediatric Research.
K. Sims,
D. Pearce,
W. Xin,
2013,
Gene.
P. Gissen,
N. Specchio,
R. Shediac,
2020,
Journal of child neurology.
J. Mink,
J. Denecke,
S. Mikhaylova,
2017,
Pediatric neurology.
Miriam,
Meral,
J. Mink,
2017
.
N. Guelbert,
R. Kohan,
V. Tapia Anzolini,
2009,
Clinical genetics.
R. Kelley,
C. Angaroni,
A. Latini,
2001,
American journal of medical genetics.
John J. Mitchell,
P. Slasor,
B. Burton,
2013,
Molecular genetics and metabolism.
John J. Mitchell,
Robert A. Matousek,
B. Burton,
2016,
Journal of Inherited Metabolic Disease.
J. Politei,
C. Lourenço,
N. Guelbert,
2018,
Journal of Pain and Symptom Management.
J. Politei,
A. Schenone,
M. Szlago,
2015,
Archivos argentinos de pediatria.
Gloria L. Porras-Hurtado,
J. Politei,
D. Horovitz,
2021,
JIMD reports.
John J. Mitchell,
Robert A. Matousek,
A. Shaywitz,
2016,
Molecular genetics and metabolism.
I. Noher de Halac,
P. Pons,
N. Guelbert,
2019,
Revista de neurologia.
K. Sims,
D. Pearce,
W. Xin,
2013,
Gene.
John J. Mitchell,
P. Slasor,
B. Burton,
2015,
Molecular genetics and metabolism.
B. Thurberg,
J. Hennermann,
P. Mabe,
2023,
Orphanet Journal of Rare Diseases.