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FERNANDO SCAGLIA
Concepts (746)
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Concepts are derived automatically from a person's publications.
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In this concept 'cloud', the sizes of the concepts are based not only on the number of corresponding publications, but also how relevant the concepts are to the overall topics of the publications, how long ago the publications were written, whether the person was the first or senior author, and how many other people have written about the same topic. The largest concepts are those that are most unique to this person.
14-3-3 Proteins
1-Alkyl-2-acetylglycerophosphocholine Esterase
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Abnormalities, Multiple
Acetylation
Acetylcarnitine
Acetylcysteine
Acidosis
Acidosis, Lactic
Acyl-CoA Dehydrogenase, Long-Chain
Acyltransferases
Adaptation, Physiological
Adaptor Proteins, Signal Transducing
Adenosine Triphosphatases
Adenosine Triphosphate
Administration, Oral
Administration, Sublingual
Adolescent
Adult
Age Determination by Skeleton
Age of Onset
Aged
Aged, 80 and over
Aldehyde Oxidase
Algorithms
Alleles
alpha 1-Antitrypsin Deficiency
alpha-Synuclein
Amino Acid Metabolism, Inborn Errors
Amino Acid Sequence
Amino Acid Substitution
Amino Acid Transport Disorders, Inborn
Amino Acid Transport Systems, Neutral
Amino Acids
Amino Acids, Branched-Chain
Amino Acyl-tRNA Synthetases
Ammonia
Androstadienes
Anemia, Macrocytic
Anemia, Sideroblastic
Aneuploidy
Animals
Anti-Arrhythmia Agents
Anticoagulants
Antigens, CD
Anti-Inflammatory Agents
Antineoplastic Agents
Antioxidants
Antiporters
Aorta
Aorta, Thoracic
Apoptosis
Arabs
Arachidonate 12-Lipoxygenase
Arachidonic Acid
Arginine
Arginine-tRNA Ligase
Argininosuccinate Lyase
Argininosuccinate Synthase
Argininosuccinic Aciduria
Arrhythmias, Cardiac
Aspartic Acid
Aspirin
Ataxia
Ataxins
ATPases Associated with Diverse Cellular Activities
ATP-Binding Cassette Transporters
Attention Deficit Disorder with Hyperactivity
Autism Spectrum Disorder
Autistic Disorder
Autoimmune Diseases of the Nervous System
Autopsy
Axons
Base Sequence
beta-Galactosidase
Betaine
Binding, Competitive
Biological Transport
Biomarkers
Biopsy
Blotting, Northern
Blotting, Southern
Blotting, Western
Bone Diseases, Metabolic
Brain
Brain Diseases
Brain Diseases, Metabolic, Inborn
Bulbar Palsy, Progressive
Bumetanide
Calcinosis
Calcium-Binding Proteins
Carbamoyl-Phosphate Synthase (Ammonia)
Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbon-Carbon Lyases
Carcinogens
Carcinoma, Hepatocellular
Cardiolipins
Cardiomyopathies
Cardiomyopathy, Dilated
Cardiomyopathy, Hypertrophic
Cardiovascular Abnormalities
Cardiovascular Diseases
Carnitine
Carrier Proteins
Carrier State
Case-Control Studies
Cataract
Catechin
Celiac Disease
Cell Cycle Proteins
Cell Membrane
Cell Nucleus
Cell Respiration
Cell Survival
Cell-Free Nucleic Acids
Cells, Cultured
Central Nervous System Diseases
Cerebellum
Cerebral Cortex
Child
Child Development Disorders, Pervasive
Child, Preschool
CHO Cells
Cholestasis, Intrahepatic
Cholesterol, HDL
Chromatin
Chromatography, High Pressure Liquid
Chromosomal Proteins, Non-Histone
Chromosome Aberrations
Chromosome Banding
Chromosome Breakage
Chromosome Breakpoints
Chromosome Deletion
Chromosome Duplication
Chromosome Mapping
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 5
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 9
Chromosomes, Human, X
Citrulline
Citrullinemia
Classical Lissencephalies and Subcortical Band Heterotopias
Clinical Trials as Topic
Codon, Nonsense
Coenzymes
Cognition Disorders
Cohort Studies
Collodion
Coloboma
Combined Modality Therapy
Comparative Genomic Hybridization
Compartment Syndromes
Computational Biology
Congenital Disorders of Glycosylation
Consanguinity
Consensus
Contraindications
Corneal Opacity
Craniofacial Abnormalities
Craniosynostoses
Creatine
Creatine Kinase
Cricetulus
Critical Care
Cross-Sectional Studies
Cutis Laxa
Cyclin T
Cyclin-Dependent Kinase 9
Cyclin-Dependent Kinases
Cyclins
Cysteine
Cytogenetic Analysis
Cytogenetics
Cytoskeletal Proteins
Databases, Genetic
Deglutition Disorders
Delivery of Health Care, Integrated
Delphi Technique
Dementia
Dementia, Vascular
Demyelinating Diseases
Desmosterol
Developmental Disabilities
Diabetes Mellitus
Diagnosis, Differential
Diet
Diet, Carbohydrate-Restricted
Dietary Proteins
Dietary Supplements
Dilatation
Dilatation, Pathologic
Diphenylhexatriene
Discoidin Domain Receptor 1
Disease Management
Disease Models, Animal
Disease Progression
Diuretics
DNA
DNA Copy Number Variations
DNA Damage
DNA Helicases
DNA Mutational Analysis
DNA Polymerase gamma
DNA Primers
DNA Repair
DNA Replication
DNA, Mitochondrial
DNA-Binding Proteins
DNA-Directed DNA Polymerase
Dosage Compensation, Genetic
Dose-Response Relationship, Drug
Double-Blind Method
Drosophila melanogaster
Drug Therapy, Combination
Ductus Arteriosus, Patent
Dynamins
Dyskinesias
Dystrophin
Echocardiography
Ehrlichiosis
Electroencephalography
Electron Transport
Electron Transport Chain Complex Proteins
Electron Transport Complex IV
Electron-Transferring Flavoproteins
Electrophoresis, Gel, Two-Dimensional
Electrophoresis, Polyacrylamide Gel
Endocrine System Diseases
Endoglin
Endoplasmic Reticulum Stress
Energy Metabolism
Energy Transfer
Enoxaparin
Enoyl-CoA Hydratase
Enzyme Activation
Enzyme Inhibitors
Enzymes
Epilepsy
Epilepsy, Generalized
Epileptic Syndromes
Erythrocytes
Esophageal Motility Disorders
Eutheria
Evidence-Based Medicine
Evoked Potentials, Auditory, Brain Stem
Evolution, Molecular
Exercise
Exercise Test
Exome
Exons
Eye Abnormalities
Face
Facies
Failure to Thrive
Family
Family Health
Fatal Outcome
Fatigue
Fatty Acids
Female
Ferredoxins
Fetal Growth Retardation
Fever
Fibroblast Growth Factor 10
Fibroblasts
Folic Acid
Folic Acid Deficiency
Follow-Up Studies
Fossils
Galactose
Galactosemias
Galactosyltransferases
Gangliosidosis, GM1
Gastrointestinal Diseases
GATA4 Transcription Factor
Gaucher Disease
Gene Deletion
Gene Dosage
Gene Duplication
Gene Expression
Gene Expression Regulation
Gene Expression Regulation, Enzymologic
Genes
Genes, Mitochondrial
Genes, Recessive
Genetic Association Studies
Genetic Counseling
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Genetic Loci
Genetic Markers
Genetic Predisposition to Disease
Genetic Testing
Genetic Therapy
Genetic Variation
Genome, Human
Genome, Mitochondrial
Genome-Wide Association Study
Genomics
Genotype
Genotyping Techniques
Georgia
Gestational Age
Gliosis
Glomerulosclerosis, Focal Segmental
Gluconeogenesis
Glucose
Glucosylceramidase
Glutamine
Glutarates
Glutathione
Glycine
Glycolipids
Glycosylation
Golgi Apparatus
Graft Rejection
Growth Disorders
GTP Phosphohydrolases
GTP-Binding Protein beta Subunits
GTP-Binding Proteins
Guanidinoacetate N-Methyltransferase
Hand Deformities, Congenital
Haploinsufficiency
Haplotypes
Hearing Loss, Sensorineural
Heart Defects, Congenital
Heart Diseases
Heart Failure
Heart Rate
Heart Transplantation
Hematopoietic Stem Cell Transplantation
Hemochromatosis
Hemochromatosis Protein
Hemorrhage
Hepatic Encephalopathy
Hepatolenticular Degeneration
Hernia, Diaphragmatic
Hernias, Diaphragmatic, Congenital
Herpes Simplex Virus Protein Vmw65
Heterogeneous-Nuclear Ribonucleoprotein U
Heterozygote
High-Throughput Nucleotide Sequencing
Hirsutism
Histocompatibility Antigens Class I
Histone Acetyltransferases
Histones
Holoprosencephaly
Homocysteine
Homocystinuria
Homologous Recombination
Homozygote
Hospitalization
Humans
Hydrogen Peroxide
Hydroxocobalamin
Hydroxymethyl and Formyl Transferases
Hyperammonemia
Hyperargininemia
Hyperkinesis
Hypertension, Pulmonary
Hypertrichosis
Hypoglycemic Agents
Hypopigmentation
Ichthyosiform Erythroderma, Congenital
Immunohistochemistry
In Situ Hybridization, Fluorescence
Infant
Infant Care
Infant, Newborn
Infant, Newborn, Diseases
Injections, Intravenous
Inositol
Insulin
Insulin Resistance
Insurance Coverage
Intellectual Disability
Intensive Care Units, Pediatric
Interview, Psychological
Intestinal Pseudo-Obstruction
Iron
Iron-Sulfur Proteins
Isoenzymes
Isotope Labeling
Italy
Kaplan-Meier Estimate
Karyotyping
Kearns-Sayre Syndrome
Kidney
Kidney Diseases
Kidney Transplantation
Kinetics
Lactic Acid
Language Development Disorders
Laryngismus
Leigh Disease
Length of Stay
Leucovorin
Leukodystrophy, Metachromatic
Lipid Metabolism, Inborn Errors
Lipids
Live Birth
Liver
Liver Diseases
Liver Failure
Liver Failure, Acute
Liver Function Tests
Liver Neoplasms
Liver Transplantation
Lung
Lung Diseases
Lung Neoplasms
Lymphocytes
Lysine
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Malabsorption Syndromes
Male
Mandibulofacial Dysostosis
Mass Screening
Mass Spectrometry
Maternal Inheritance
Maternal-Fetal Exchange
Meglutol
MELAS Syndrome
Membrane Potential, Mitochondrial
Membrane Potentials
Membrane Proteins
Membrane Transport Proteins
Mental Disorders
Merozoite Surface Protein 1
Metabolic Diseases
Metabolic Networks and Pathways
Metabolic Syndrome
Metabolism, Inborn Errors
Metabolome
Metabolomics
Metal Metabolism, Inborn Errors
Metalloendopeptidases
Metalloproteins
Methionine
Methyl-CpG-Binding Protein 2
Methylenetetrahydrofolate Reductase (NADPH2)
Methylmalonic Acid
Mice
Mice, Inbred C57BL
Mice, Knockout
Mice, Transgenic
Microcephaly
Microcirculation
Microfilament Proteins
Micrognathism
Microsatellite Repeats
Microscopy, Electron
Microscopy, Electron, Transmission
Microtubule-Associated Proteins
Middle Aged
Mitochondria
Mitochondria, Muscle
Mitochondrial Diseases
Mitochondrial Dynamics
Mitochondrial Encephalomyopathies
Mitochondrial Membrane Transport Proteins
Mitochondrial Membranes
Mitochondrial Myopathies
Mitochondrial Proteins
Mitochondrial Proton-Translocating ATPases
Models, Biological
Models, Genetic
Models, Molecular
Molecular Chaperones
Molecular Dynamics Simulation
Molecular Sequence Data
Monosaccharide Transport Proteins
Monosomy
Mosaicism
Movement Disorders
Multienzyme Complexes
Multifunctional Enzymes
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Munc18 Proteins
Muscle Hypotonia
Muscle Weakness
Muscle, Skeletal
Muscle, Smooth, Vascular
Muscles
Muscular Atrophy
Muscular Diseases
Mutagenesis
Mutation
Mutation Rate
Mutation, Missense
Myelin Proteolipid Protein
Myelin Sheath
Myocardium
Myocytes, Cardiac
NAD
NADP
Neck
Neonatal Screening
Neoplasm Proteins
Neoplasms
Nephrolithiasis
Nephrons
Nephrosis, Lipoid
Nerve Degeneration
Nerve Fibers, Myelinated
Nerve Growth Factors
Nerve Tissue Proteins
Nervous System Diseases
Nervous System Malformations
Neurodevelopmental Disorders
Neuroglia
Neuromuscular Diseases
Neurons
NF-E2-Related Factor 1
NF-E2-Related Factor 2
Niacin
Nicaragua
Nitric Oxide
Nitric Oxide Donors
Nitric Oxide Synthase Type III
Nitrogen
North America
Nuclear Proteins
Nuclear Respiratory Factor 1
Nuclear Respiratory Factors
Nucleic Acid Hybridization
Nucleocytoplasmic Transport Proteins
Nucleotides
Nucleotidyltransferases
Nutritional Support
Obesity
Oculocerebrorenal Syndrome
Odds Ratio
Oligodendroglia
Oligonucleotide Array Sequence Analysis
Oligopeptides
Oligosaccharides
Ophthalmoplegia
Optic Atrophy
Optic Atrophy, Autosomal Dominant
Optic Atrophy, Hereditary, Leber
Organ Specificity
Organic Anion Transporters
Organic Cation Transport Proteins
Organogenesis
Organophosphorus Compounds
Ornithine
Ornithine Carbamoyltransferase
Ornithine Carbamoyltransferase Deficiency Disease
Orotic Acid
Ouabain
Ovarian Diseases
Ovary
Oxidation-Reduction
Oxidative Phosphorylation
Oxidative Stress
Oxidoreductases
Oxidoreductases Acting on CH-CH Group Donors
Oxidoreductases Acting on CH-NH Group Donors
Oximes
Palmitic Acid
Palmitoylcarnitine
Parkinson Disease
Paternal Inheritance
Pathology, Molecular
Pedigree
Pelizaeus-Merzbacher Disease
Penetrance
Peptide Elongation Factors
Peripheral Nervous System Diseases
Peroxisomes
Phenotype
Phenylacetates
Phenylbutyrates
Phenylketonurias
Phorbol 12,13-Dibutyrate
Phosphatidylglycerols
Phospholipids
Phosphoric Monoester Hydrolases
Phosphorylation
Phosphotransferases (Alcohol Group Acceptor)
Phylogeny
Physicians
Pilot Projects
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Polysaccharides
Porphyria, Acute Intermittent
Potassium
Potassium Channels, Tandem Pore Domain
Practice Guidelines as Topic
Practice Patterns, Physicians'
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Predictive Value of Tests
Pre-Eclampsia
Pregnancy
Pregnancy Complications
Prenatal Care
Prevalence
Progeria
Prognosis
Promoter Regions, Genetic
Propionic Acidemia
Prospective Studies
Protein Binding
Protein Biosynthesis
Protein Conformation
Protein Domains
Protein-Losing Enteropathies
Proteins
Protein-Tyrosine Kinases
Proton-Coupled Folate Transporter
Psychomotor Disorders
Pteridines
Pterins
Puberty, Precocious
Purpura
Pyruvate Dehydrogenase Complex Deficiency Disease
Quality of Life
Racemases and Epimerases
Radiography
Rats
Reactive Nitrogen Species
Receptor Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Cell Surface
Receptors, Estrogen
Receptors, G-Protein-Coupled
Recombinant Proteins
Recovery of Function
Recurrence
Reduced Folate Carrier Protein
Reference Values
Registries
Replication Origin
Repressor Proteins
Retrospective Studies
Reverse Transcriptase Polymerase Chain Reaction
Reye Syndrome
Rhabdomyolysis
Rhombencephalon
Riboflavin
Riboflavin Deficiency
Ribonucleoprotein, U5 Small Nuclear
Risk Factors
RNA
RNA Helicases
RNA Polymerase II
RNA Splice Sites
RNA, Messenger
RNA, Ribosomal, 16S
RNA, Transfer
RNA, Transfer, Leu
Rubidium
Saccharomyces cerevisiae
Schizophrenia
Schwann Cells
Segmental Duplications, Genomic
Seizures
Sensitivity and Specificity
Sequence Alignment
Sequence Analysis, DNA
Sequence Deletion
Sequence Homology, Amino Acid
Serologic Tests
Severity of Illness Index
Sex Characteristics
Siblings
Signal Transduction
Sinus Thrombosis, Intracranial
Sloths
Sodium
Sodium Benzoate
Sodium-Potassium-Exchanging ATPase
Solute Carrier Family 22 Member 5
South America
Spasms, Infantile
Spectrometry, Fluorescence
Spinal Cord
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Staining and Labeling
Standard of Care
Stroke
Sulfite Oxidase
Sulfite Reductase (Ferredoxin)
Sulfites
Sulfurtransferases
Survival Analysis
Survival Rate
Survivors
Syndrome
Tachycardia, Ventricular
T-Box Domain Proteins
Tetrahydrofolates
Texas
Thiosulfates
Thrombosis
Thymidine
Thymidine Kinase
Thymidine Phosphorylase
Time
Time Factors
Tomography, X-Ray Computed
Trans-Activators
Transcobalamins
Transcription Factors
Transcription, Genetic
Translocation, Genetic
Treatment Outcome
Trinucleotide Repeat Expansion
Trisomy
Triterpenes
tRNA Methyltransferases
Tumor Suppressor Proteins
Turner Syndrome
Tyrosine
Tyrosinemias
Ubiquinone
UDPglucose 4-Epimerase
Urea
Urea Cycle Disorders, Inborn
Uridine Diphosphate Galactose
Urinary Tract
Urogenital Abnormalities
UTP-Hexose-1-Phosphate Uridylyltransferase
Venous Thrombosis
Vesicular Acetylcholine Transport Proteins
Vitamin B 12
Vitamin B 12 Deficiency
Vitamins
WW Domain-Containing Oxidoreductase
X Chromosome Inactivation
Xanthine Dehydrogenase
Xenobiotics
Xenopus laevis
Young Adult
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Concepts (746)
Derived automatically from this person's publications.
Mitochondrial Diseases
DNA, Mitochondrial
MELAS Syndrome
Mitochondrial Myopathies
Mitochondria
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Co-Authors (126)
People in Profiles who have published with this person.
ELSEA, SARAH
CRAIGEN, WILLIAM
SOLER-ALFONSO, CLAUDIA
LALANI, SEEMA
BEKHEIRNIA, MIR REZA
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Similar People (60)
People who share similar concepts with this person.
LUPSKI, JAMES
BOERWINKLE, ERIC
CRAIGEN, WILLIAM
ELSEA, SARAH
HUISMAN, THIERRY
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Same Department
People who are also in this person's primary department.
BATES, DAVID
GINGRAS, MARIE-CLAUDE
GLINTON, KEVIN
LALANI, SEEMA
LANZA, DENISE
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Physical Neighbors
People whose addresses are nearby this person.
BALLABIO, ANDREA
BEKHEIRNIA, MIR REZA
BOTAS, JUAN
CRAIGEN, WILLIAM
DHAR, SHWETA
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