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Journal of Inborn Errors of Metabolism and Screening
Latest Publications
TOTAL DOCUMENTS
181
(FIVE YEARS 56)
H-INDEX
7
(FIVE YEARS 1)
Published By Scielo
2326-4594, 2326-4098
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders
Journal of Inborn Errors of Metabolism and Screening
◽
10.1590/2326-4594-jiems-2020-0011
◽
2021
◽
Vol 9
◽
Author(s):
José Ramón Alonso-Fernández
◽
Javier Fidalgo López
Keyword(s):
Newborn Screening
◽
Lysosomal Storage Disorders
◽
Urine Samples
◽
Lysosomal Storage
◽
Alternative Technologies
◽
Storage Disorders
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Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2021-0025
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2021
◽
Vol 9
◽
Author(s):
Carolina F. Moura de Souza
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Bibiana M. de Oliveira
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Ida V D. Schwartz
◽
Terry Derks
Keyword(s):
Fatty Acid
◽
Fatty Acid Oxidation
◽
Glycogen Storage
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Acid Oxidation
◽
Hepatic Glycogen
◽
Fatty Acid Oxidation Disorders
◽
Storage Diseases
◽
Glycogen Storage Diseases
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Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2020-0030
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2021
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Vol 9
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Author(s):
G.M. Papazoglu
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S.M. Silvera Ruiz
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R. Salinas
◽
M.I. Pereira
◽
M.A. Cubilla
◽
...
Keyword(s):
Platelet Membrane
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Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2021-0021
◽
2021
◽
Vol 9
◽
Author(s):
Lina Johanna Moreno Giraldo
◽
José María Satizabal
◽
Adalberto Sánchez Gómez
Keyword(s):
Allelic Frequency
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Update on Dietary Compliance, Nutritional Status, and Neuropsychological Functioning in the Chilean Phenylketonuria cohort
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2021-0003
◽
2021
◽
Vol 9
◽
Author(s):
M.J. Leal-Witt
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M.F. Salazar
◽
F. Peñaloza
◽
G. Castro
◽
V. Hamilton
◽
...
Keyword(s):
Nutritional Status
◽
Neuropsychological Functioning
◽
Dietary Compliance
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Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2020-0018
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2021
◽
Vol 9
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Author(s):
Daniela Arturo Terranova
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Lina Johanna Moreno Giraldo
◽
Henry Idrobo
◽
José María Satizabal
Keyword(s):
Molecular Characterization
◽
Gaucher Disease
◽
Gba Gene
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Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2021-0012
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2021
◽
Vol 9
◽
Author(s):
Antonio Bermúdez
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Dora Robayo
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Gloria Porras
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María Amparo Acosta
Keyword(s):
Mass Spectrometry
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Amino Acids
◽
Tandem Mass Spectrometry
◽
Reference Values
◽
Neonatal Screening
◽
Inborn Errors Of Metabolism
◽
Tandem Mass
◽
Inborn Errors
Download Full-text
Depression: The Hidden Problem in Fabry Disease. A Review
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2021-0015
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2021
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Vol 9
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Author(s):
Anibal Chertcoff
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Luciana León Cejas
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Cintia Marchesoni
◽
Ricardo Reisin
Keyword(s):
Fabry Disease
Download Full-text
Clinical Manifestation in Females with X-linked Metabolic Disorders: Genetic and Pathophysiological Considerations
Journal of Inborn Errors of Metabolism and Screening
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10.1590/2326-4594-jiems-2020-0024
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2021
◽
Vol 9
◽
Author(s):
Michael Beck
Keyword(s):
Clinical Manifestation
◽
Metabolic Disorders
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Editorial Letter to the Special Issue on Newborn Screening in Latin America (Commemorating the Silver Jubilee of the Latin American Society for Inborn Errors of Metabolism and Neonatal Screening - SLEIMPN)
Journal of Inborn Errors of Metabolism and Screening
◽
10.1590/2326-4594-jiems-2021-0023
◽
2021
◽
Vol 9
◽
Author(s):
Graciela Queiruga
◽
Gustavo JC Borrajo
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Verónica Cornejo
Keyword(s):
Latin America
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Newborn Screening
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Latin American
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Neonatal Screening
◽
Inborn Errors Of Metabolism
◽
Special Issue
◽
Inborn Errors
◽
American Society
◽
Latin American Society
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