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View article: Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)
Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS) Open
Aims Familial hypercholesterolemia (FH) significantly increases cardiovascular risk from childhood yet remains widely underdiagnosed. This cross-sectional study aimed to evaluate existing paediatric FH diagnostic criteria in real-world coh…
View article: Atypical <scp>MEGDHEL</scp> Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <scp><i>SERAC1</i></scp>
Atypical <span>MEGDHEL</span> Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <span><i>SERAC1</i></span> Open
MEGDHEL syndrome, caused by a SERAC1 gene defect, is clinically defined as the association of 3‐MGA‐uria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh‐like features (L). Clinical presentation typically begins in the n…
View article: Epilepsy and Cognition in GM2-Gangliosidosis B1 Variant – Experience of a Tertiary Hospital
Epilepsy and Cognition in GM2-Gangliosidosis B1 Variant – Experience of a Tertiary Hospital Open
Introduction: GM2 gangliosidosis B1 variant (GM2B1) is an autosomal recessive disorder due to deficiency of β-hexosaminidase A, leading to the lysosomal storage of GM2 gangliosides in neuronal tissue and neuronal death. Symptoms include pr…
View article: Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients Open
Among the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on …
View article: Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients
Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients Open
Among the many Lysosomal Storage Disorders (LSDs) that would benefit from the establish-ment of novel cell models, either patient-derived or genetically engineered, is Mucopolysaccha-ridosis type II (MPS II). In fact, even though a specifi…
View article: The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Open
Introduction: Rare disorders that are genetically and clinically heterogeneous, such as mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most proteins involved in mitochondrial biogenesis, despite all mitoch…
View article: Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype Open
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), pol…
View article: Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features
Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features Open
Methylmalonyl coenzyme A (CoA) epimerase (MCE) converts D-methylmalonyl-CoA into L-methylmalonyl CoA in the final common degradation pathway of valine, isoleucine, methionine, threonine, odd-chain fatty acids, and cholesterol side chains. …
View article: Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalized in an Intensive Care Unit
Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalized in an Intensive Care Unit Open
Background The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inher…
View article: Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal Open
Background: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C…
View article: X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should Not Miss
X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should Not Miss Open
X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disease caused by a mutation in gene ABCD1, impairing peroxisomal b-oxidation of very long-chain fatty acids. It has a heterogeneous clinical presentation that may difficult the…
View article: Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review Open
Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chai…
View article: Progressive Generalized Dystonia‐Parkinsonism in a Child with Fumaric Aciduria
Progressive Generalized Dystonia‐Parkinsonism in a Child with Fumaric Aciduria Open
Inherited Metabolic Disorders (IMD) can present with different movement disorders, from infancy to adulthood. Movements can range from subtle to be the main feature of the disease. Fumaric aciduria (FA) is a rare IMD resulting from a defic…
View article: Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency Open
Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in thes…
View article: Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses Open
Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). P…
View article: Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the Experience of a Portuguese Pediatric Centre
Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the Experience of a Portuguese Pediatric Centre Open
Introduction: Ketogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three …
View article: Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry Open
Aim To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E‐HOD) international web…
View article: Phenotyping GABA transaminase deficiency: a case description and literature review
Phenotyping GABA transaminase deficiency: a case description and literature review Open
Gamma‐aminobutyric acid transaminase (GABA‐T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4‐aminobutyrate transaminase, an enzyme of GAB…
View article: ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients Open
Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mann…