Developmental delay

Does a peculiar EEG pattern exist also for FRAXE mental retardation?

Engineering / Genetics / Electroencephalography / Obsessive-Compulsive Disorder / Molecular Genetics / Intellectual Disability / Mental Retardation / Brain Mapping / Brain / Humans / Child / Clinical / Male / Reading and writing / Proteins / Clinical Neurophysiology / Somatosensory Evoked Potentials / Developmental delay / Median Nerve / Intellectual Disability / Mental Retardation / Brain Mapping / Brain / Humans / Child / Clinical / Male / Reading and writing / Proteins / Clinical Neurophysiology / Somatosensory Evoked Potentials / Developmental delay / Median Nerve

Developmental and degenerative features in a complicated spastic paraplegia

Genetics / Magnetic Resonance Imaging / Adolescent / Sequence Analysis / Neurodegenerative Diseases / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction

Developmental and degenerative features in a complicated spastic paraplegia

Genetics / Magnetic Resonance Imaging / Adolescent / Sequence Analysis / Neurodegenerative Diseases / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

Molecular Genetics / Adolescent / Humans / Female / Animals / Levodopa / Dystonia / Clinical Sciences / Consanguinity / Diurnal Variation / Biological markers / Developmental delay / Autosomal Recessive / Levodopa / Dystonia / Clinical Sciences / Consanguinity / Diurnal Variation / Biological markers / Developmental delay / Autosomal Recessive

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Genetics / Adolescent / Sweden / Mental Retardation / Humans / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies

Síndrome de Prader Willi: estudio de 77 pacientes

Genetics / Algorithms / Adolescent / Mental Retardation / Humans / Child / Female / Male / Young Adult / Infant / Prader-Willi Syndrome / Adult / Developmental delay / Medicina Clinica / Cross Sectional Studies / Child / Female / Male / Young Adult / Infant / Prader-Willi Syndrome / Adult / Developmental delay / Medicina Clinica / Cross Sectional Studies

Spatiotemporal atlas estimation for developmental delay detection in longitudinal datasets

Algorithms / Artificial Intelligence / Morphological evolution / Aging / Humans / Three Dimensional Imaging / Longitudinal Studies / Image Enhancement / Regression Model / Longitudinal data / Reproducibility of Results / Developmental delay / Sensitivity and Specificity / Image Computing / Three Dimensional Imaging / Longitudinal Studies / Image Enhancement / Regression Model / Longitudinal data / Reproducibility of Results / Developmental delay / Sensitivity and Specificity / Image Computing

Ethylmalonic encephalopathy—report of two cases

Genetics / Magnetic Resonance Imaging / Brain development / Metabolic Bone Disease / Brain / Humans / Male / Cytochrome c oxidase / Infant / Developmental delay / Autosomal Recessive / Malonates / Organic Acid / Humans / Male / Cytochrome c oxidase / Infant / Developmental delay / Autosomal Recessive / Malonates / Organic Acid

Ethylmalonic encephalopathy—report of two cases

Genetics / Magnetic Resonance Imaging / Brain development / Metabolic Bone Disease / Brain / Humans / Male / Cytochrome c oxidase / Infant / Developmental delay / Autosomal Recessive / Malonates / Organic Acid / Humans / Male / Cytochrome c oxidase / Infant / Developmental delay / Autosomal Recessive / Malonates / Organic Acid

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

Humans / Male / Infant / Developmental disabilities / Clinical Sciences / Developmental delay / Autosomal Recessive / Developmental delay / Autosomal Recessive

Spatiotemporal atlas estimation for developmental delay detection in longitudinal datasets

Algorithms / Artificial Intelligence / Morphological evolution / Aging / Humans / Three Dimensional Imaging / Longitudinal Studies / Image Enhancement / Regression Model / Longitudinal data / Reproducibility of Results / Developmental delay / Sensitivity and Specificity / Image Computing / Three Dimensional Imaging / Longitudinal Studies / Image Enhancement / Regression Model / Longitudinal data / Reproducibility of Results / Developmental delay / Sensitivity and Specificity / Image Computing

Síndrome de Prader Willi: estudio de 77 pacientes

Genetics / Mental Retardation / Prader-Willi Syndrome / Developmental delay / Medicina Clinica

Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Biochemistry / Genetics / Adolescent / Medicine / Genetic Diversity / Case Report / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Statistical Significance / Infant / Netherlands / Newborn Screening / Phenotype / Newborn Infant / L-carnitine / Genotype / Deficiency / Retrospective Studies / Developmental delay / Autosomal Recessive / Deficit / Clinical Signs / Retrospective Study / Malonates / JAMA / Riboflavin / Case Report / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Statistical Significance / Infant / Netherlands / Newborn Screening / Phenotype / Newborn Infant / L-carnitine / Genotype / Deficiency / Retrospective Studies / Developmental delay / Autosomal Recessive / Deficit / Clinical Signs / Retrospective Study / Malonates / JAMA / Riboflavin

Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation

Humans / Male / Infant / Developmental disabilities / Clinical Sciences / Metabolic Acidosis / Developmental delay / Psychomotor Disorders / Metabolic Acidosis / Developmental delay / Psychomotor Disorders

Guanidinoacetate methyltransferase deficiency: New clinical features

Magnetic Resonance Spectroscopy / Pediatric Neurology / Basal ganglia / Developmental delay / Neurosciences / Movement Disorder

Generalized epimerase deficiency galactosemia

Pediatrics / Tropical Medicine / Humans / Male / Infant / Liver Function / Enzyme / Deficiency / Developmental delay / Deficit / Clinical Signs / Liver Function / Enzyme / Deficiency / Developmental delay / Deficit / Clinical Signs

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