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Journal of Inborn Errors of Metabolism and Screening (2326-4594)
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Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common? 1174 0 0 20 1194
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Leigh Syndrome Due to mtDNA Pathogenic Variants 249 0 0 40 289
Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients 245 0 0 25 270
“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era 216 0 0 48 264
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III 219 0 0 22 241
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients 183 0 0 56 239
Parenting Styles and Coping Strategies in PKU Early Detected Children 202 0 0 28 230
Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation 210 0 0 5 215
Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina 183 0 0 29 212
The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and Germany 173 0 0 28 201
Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico 177 0 0 23 200
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort 136 0 0 58 194
Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique 153 0 0 41 194
Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease 142 0 0 38 180
Clinical Manifestation in Females with X-linked Metabolic Disorders: Genetic and Pathophysiological Considerations 161 0 0 15 176
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods 148 0 0 27 175
Differences in Newborn Screening Results Among Women with Gestational Diabetes Mellitus 155 0 0 18 173
A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) 149 0 0 20 169
Update on Dietary Compliance, Nutritional Status, and Neuropsychological Functioning in the Chilean Phenylketonuria cohort 148 0 0 21 169
A New Fluorescent Method to Detect Sulfamidase Activity in Blood, Tissue Extracts and Dried Blood Spots 134 0 0 20 154
Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders 133 0 0 18 151
Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia 124 0 0 25 149
Inherited Metabolic Diseases as a Multisystem Model of Mental Disorders Research 121 0 0 19 140
Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease 103 0 0 36 139
Perthes-Like Disease Masquerading Non-Classical MPS 122 0 0 15 137
Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI 107 0 0 28 135
Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese 102 0 0 31 133
Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America 104 0 0 27 131
A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients 98 0 0 32 130
Neonatal Screening for Congenital Hypothyroidism in Nicaragua: Audit of a Cord-blood Thyrotropin-based Program (2005-2015) 115 0 0 6 121
25 Years of Newborn Screening in Uruguay 104 0 0 16 120
Clinical Application of Liquid Chromatography Tandem Mass Spectrometry Using Dried Blood Spot as a More Rapid Method for Determination of Methylmalonic Acid, Propionylcarnitine, and Total Homocysteine 93 0 0 21 114
Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study 93 0 0 18 111
Physiotherapy for Children with CLN2 Disease 103 0 0 6 109
Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity 90 0 0 15 105
Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic 88 0 0 16 104
Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry 84 0 0 19 103
Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening 75 0 0 26 101
Home-Based Care for Patients with Lysosomal Storage Disease: Experiences in Argentina 86 0 0 13 99
Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America 87 0 0 12 99
Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants 81 0 0 17 98
Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador 87 0 0 11 98
Obituary: Toshiyuki Fukao (1961-2020), a friend of the Latin American IEM community 95 0 0 0 95
Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation 58 0 0 29 87
Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders 86 0 0 0 86
Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series 56 0 0 25 81
How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity? 64 0 0 15 79
Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile 54 0 0 13 67
Depression: The Hidden Problem in Fabry Disease. A Review 59 0 0 8 67
Consolidation of the Neonatal Screening Program as a Public Health Program in Paraguay 55 0 0 5 60
Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia 41 0 0 17 58
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) 53 0 0 0 53
Platelet Membrane Glycoprofiling in a PMM2-CDG Patient 44 0 0 8 52
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study 31 0 0 7 38
Toward a Core Outcome Set for Head, Neck, and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting 32 0 0 5 37
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