Ciência Nordeste

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André Luiz Santos Pessoa

Hospital Infantil Albert Sabin · CE · 57 publicações em 2022–2026

ORCID 0000-0003-0043-5373

Metabolism and Genetic DisordersGenomics and Rare DiseasesLysosomal Storage Disorders ResearchMosquito-borne diseases and controlHereditary Neurological Disorders

Principais coautores no Nordeste tamanho = publicações em comum

Paulo Ribeiro Nóbrega Erlane Marques Ribeiro Pedro Lucas Grangeiro de Sá Barreto Lima Tamiris Carneiro Mariano Antônio Edvan Camelo-Filho Pedro Braga‐Neto Aline Campos Fontenele Rodrigues Rodrigo Fagundes da Rosa Raffaela Neves Mont’alverne Napoleão Rôsicler Pereira de Gois Beatriz Esmeraldo Teixeira Ellen Mourão Soares Lopes

Publicações recentes

2026 10

Clinical and Genetic Spectrum of ATP1A3 -Related Disorders
Neurociência · Neurology Genetics
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1
Bioquímica, genética e biologia molecular · European Journal of Human Genetics
Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study
Bioquímica, genética e biologia molecular · The Cerebellum
Multimodal neurophysiological and ultrasound evaluation in Hopkins syndrome: a case report
Medicina · The Egyptian Journal of Neurology Psychiatry and Neurosurgery
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9 -Related Intellectual Disability and Myopathy Syndrome
Bioquímica, genética e biologia molecular · Neurology Genetics
The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature
Neurociência · Journal of Neurology
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
Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study
Medicina · Clinical Genetics
Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in Brazil
Medicina · Arquivos de Neuro-Psiquiatria
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Neurociência · Muscle & Nerve

2025 10

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome
Medicina · Viruses
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Bioquímica, genética e biologia molecular · Nature Genetics
Patient journey and disease burden characterization of the population with phenylketonuria (PKU) in Brazil: a retrospective analysis through data reported in the public health system administrative database (DATASUS)
Bioquímica, genética e biologia molecular · The Lancet Regional Health - Americas
Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series
Neurociência · The Cerebellum
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort
Bioquímica, genética e biologia molecular · Scientific Reports
Nerve Ultrasound Detects Nerve Atrophy in Patients With Ataxia‐Telangiectasia: A Pilot Study
Medicina · Muscle & Nerve
Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective
Medicina · Arquivos de Neuro-Psiquiatria
Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series
Medicina · Frontiers in Neurology
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Neurociência · Journal of Clinical Investigation
Juvenile Dystonia Associated with Heterozygous Missense Variant in KCNJ10
Medicina · Movement Disorders

2024 13

Newborns with microcephaly in Brazil and potential vertical transmission of Oropouche virus: a case series
Medicina · The Lancet Infectious Diseases
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Bioquímica, genética e biologia molecular · Orphanet Journal of Rare Diseases
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
Medicina · Arquivos de Neuro-Psiquiatria
Meta-analysis of bone mineral density in adults with phenylketonuria
Bioquímica, genética e biologia molecular · Orphanet Journal of Rare Diseases
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
Medicina · Genetics in Medicine
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
Medicina · Arquivos de Neuro-Psiquiatria
Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention
Neurociência · Brain Sciences
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
Novel variants in the SOX11 gene: clinical description of seven new patients
Medicina · European Journal of Human Genetics
Genetic profile of Brazilian patients with LAMA2 ‐related dystrophies
Bioquímica, genética e biologia molecular · Clinical Genetics
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing
Bioquímica, genética e biologia molecular · Molecular Genetics and Metabolism
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
Síndrome de Aarskog
Bioquímica, genética e biologia molecular · Journal of Health & Biological Sciences

2023 16

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy
Bioquímica, genética e biologia molecular · Arquivos de Neuro-Psiquiatria
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
Bioquímica, genética e biologia molecular · Nutrients
Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group
Medicina · Arquivos de Neuro-Psiquiatria
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
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Medicina · Journal of Neurology Neurosurgery & Psychiatry
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility
Bioquímica, genética e biologia molecular · Brain Sciences
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype
Imunologia e microbiologia · Brain Sciences
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
Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)
Bioquímica, genética e biologia molecular · Brain Sciences
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
Characterization of the profile of patients with spinal muscular atrophy types 2 and 3 being followed up in the Brazilian public health system
Medicina · Journal of the Neurological Sciences
Difficulties in treating CLN2 through enzyme replacement therapy
Medicina · 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
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
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
Neurological characteristics of Zika virus embryopathy cases in Ceará
Medicina · Arquivos de Neuro-Psiquiatria

2022 1

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
Bioquímica, genética e biologia molecular · Frontiers in Neurology

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