Erlane Marques Ribeiro

Hospital Infantil Albert Sabin · CE · 42 publicações em 2022–2026

Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchGenomics and Rare DiseasesMosquito-borne diseases and controlGlycogen Storage Diseases and Myoclonus

Principais coautores no Nordeste tamanho = publicações em comum

André Luiz Santos Pessoa Tamiris Carneiro Mariano Aline Campos Fontenele Rodrigues Ester Mara Rodrigues Freire Raffaela Neves Mont’alverne Napoleão Rôsicler Pereira de Gois Beatriz Esmeraldo Teixeira Mariana de Souza Rocha Teixeira Wallace William da Silva Meireles Angelina Xavier Acosta Ellaine Dóris Fernandes Carvalho Isabella Lopes Monlleó

Publicações recentes

2026 4

Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia
Bioquímica, genética e biologia molecular · Orphanet Journal of Rare Diseases
Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey
Bioquímica, genética e biologia molecular · Journal of Community Genetics
Craniofacial Suture Maturation in Pycnodysostosis: A CBCT-Based Assessment of the Midpalatal, Zygomaticomaxillary Sutures and the Spheno-Occipital Synchondrosis
Medicina · The Cleft Palate-Craniofacial Journal
Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT ‐Related Case
Bioquímica, genética e biologia molecular · Journal of the Peripheral Nervous System

2025 2

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network
Medicina · Diseases
Relato de caso: Embriopatia por varfarina - uma síndrome congênita prevenível
Medicina · Revista Interagir

2024 16

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
Bioquímica, genética e biologia molecular · Orphanet Journal of Rare Diseases
Association between Sleep and Language Development in Children with Congenital Zika Syndrome
Medicina · Viruses
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa
Medicina · Molecular Genetics and Metabolism Reports
Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil
Odontologia · Jornal de Pediatria
Disease progression in Sanfilippo type B: Case series of Brazilian patients
Medicina · Genetics and Molecular Biology
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
Bioquímica, genética e biologia molecular · Genes
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing
Bioquímica, genética e biologia molecular · Molecular Genetics and Metabolism
Language development and sleep quality in children with Congenital Zika Syndrome: a longitudinal study
Medicina · Sleep Medicine
Síndrome de Aarskog
Bioquímica, genética e biologia molecular · Journal of Health & Biological Sciences
Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]
Medicina · Molecular Genetics and Metabolism Reports
Phenotypic characterization of a boy with 4q duplication associated with anorectal anomaly: case report
Bioquímica, genética e biologia molecular · Residência Pediátrica
Meningomyelocele and its management in pediatric genetics: A theme review of its biomedical and psychosocial aspects
Medicina · Residência Pediátrica
PERFIL EPIDEMIOLÓGICO DE PACIENTES COM FISSURA ORAL NO SERVIÇO DE GENÉTICA EM UM HOSPITAL TERCIÁRIO DO CEARÁ
Odontologia · Revista Foco
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
Medicina · Journal of Community Genetics
Prevalence of sleep disorders in children with congenital Zika virus syndrome in a reference service in the state of Ceará
Medicina · Arquivos de Neuro-Psiquiatria
Schmid-Fraccaro syndrome: case report
Imunologia e microbiologia · Arquivos de Neuro-Psiquiatria

2023 14

Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments
Bioquímica, genética e biologia molecular · Brain Sciences
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
Odontologia · European Journal of Human Genetics
GBA1 variants in Brazilian Gaucher disease patients
Medicina · Molecular Genetics and Metabolism Reports
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility
Bioquímica, genética e biologia molecular · Brain Sciences
Language skills development in children with congenital Zika virus syndrome
Medicina · Early Human Development
Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil
Bioquímica, genética e biologia molecular · Arquivos de Neuro-Psiquiatria
Mucopolysaccharidosis III at the reference center for rare diseases of Ceará
Medicina · Arquivos de Neuro-Psiquiatria
Difficulties in treating CLN2 through enzyme replacement therapy
Medicina · Arquivos de Neuro-Psiquiatria
UNRAVELING PHENOTYPES IN A COHORT OF BRAZILIAN PATIENTS WITH CUTANEOUS PORPHYRIAS: INTEGRATING BIOCHEMICAL TESTING AND A TARGETED GENE PANEL TO SOLVE CLINICAL CONUNDRUMS
Bioquímica, genética e biologia molecular · Molecular Genetics and Metabolism
Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil
Bioquímica, genética e biologia molecular · Arquivos de Neuro-Psiquiatria
Neurological characteristics of Zika virus embryopathy cases in Ceará
Medicina · Arquivos de Neuro-Psiquiatria
Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state
Bioquímica, genética e biologia molecular · Arquivos de Neuro-Psiquiatria
Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil
Bioquímica, genética e biologia molecular · Arquivos de Neuro-Psiquiatria
Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil
Medicina · Arquivos de Neuro-Psiquiatria

2022 6

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
Bioquímica, genética e biologia molecular · Orphanet Journal of Rare Diseases
Genetic Analysis of Osteogenesis Imperfecta in a Large Brazilian Cohort
Bioquímica, genética e biologia molecular · Bone
Aspectos clínicos e epidemiológicos da Acondroplasia: uma série de casos do Nordeste brasileiro
Bioquímica, genética e biologia molecular · Research Society and Development
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil
Bioquímica, genética e biologia molecular · Journal of Pediatric Genetics
Apresentação clínica de osteogênese XV em um menino brasileiro de 4 anos
Bioquímica, genética e biologia molecular · Journal of Health & Biological Sciences
Dental treatment before surgery in a patient with cleft lip and palate: case report
Odontologia · Journal of Health & Biological Sciences

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