Autosomal Recessive

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica

Peripheral Neuropathy / Geographic distribution / Random sampling / CHarcot Marie Tooth / Autosomal Recessive / Charcot Marie Tooth Disease / Allele Frequency / Charcot Marie Tooth Disease / Allele Frequency

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Prenatal diagnosis of Neu-Laxova syndrome: a case report

Bioinformatics / Nursing / Life Sciences / Ultrasound / Genetic counseling / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction

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Prenatal diagnosis of Neu-Laxova syndrome: a case report

Bioinformatics / Nursing / Life Sciences / Ultrasound / Genetic counseling / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction

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A Canine Model of Human alpha -L-iduronidase Deficiency

Multidisciplinary / Dogs / Humans / Female / Animals / Male / Animal Model / Skin / Pedigree / Autosomal Recessive / Lysosomes / Leukocytes / Male / Animal Model / Skin / Pedigree / Autosomal Recessive / Lysosomes / Leukocytes

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A diet-induced mouse model for glutaric aciduria type I

Magnetic Resonance Imaging / Diet / Survival Analysis / Brain / Mice / Blood brain barrier / Female / Animals / Plant tissue Culture Techniques / Male / Astrocyte / Animal Model / Neurons / Mouse Model / Lysine / Subarachnoid haemorrhage / Human Disease / Dietary Protein / High-protein Diet / Autosomal Recessive / White Matter Lesions / Corpus striatum / Blood brain barrier / Female / Animals / Plant tissue Culture Techniques / Male / Astrocyte / Animal Model / Neurons / Mouse Model / Lysine / Subarachnoid haemorrhage / Human Disease / Dietary Protein / High-protein Diet / Autosomal Recessive / White Matter Lesions / Corpus striatum

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Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice

Genetics / Mice / Female / Animals / Male / Biochemical / Phenotype / Enzyme / Sex Factors / Isoenzymes / Fatty Acid / Gas Chromatography/mass Spectrometry / Genetic variation / Enzyme activity / Biochemical Genetics / Glycine / Species Specificity / Autosomal Recessive / Malonates / Biochemical / Phenotype / Enzyme / Sex Factors / Isoenzymes / Fatty Acid / Gas Chromatography/mass Spectrometry / Genetic variation / Enzyme activity / Biochemical Genetics / Glycine / Species Specificity / Autosomal Recessive / Malonates

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Repetidos ciclos de ICSI sin conseguir gestación en un paciente con síndrome de Kartagener

Electron Microscopy / Transmission Electron Microscopy / Intracytoplasmic Sperm Injection / Donor Insemination / Fertility Rate / Autosomal Recessive

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Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

Clinical Trial / Cerebral Palsy / Adolescent / Movement disorders / Brain / Humans / Child / Circadian Rhythm / Female / Male / Developmental disabilities / Levodopa / Cognitive impairment / Genotype / Cognitive Function / Diurnal Variation / Neuropediatrics / Young Children / Autosomal Recessive / Neurosciences / Cognition disorders / Motor activity / Humans / Child / Circadian Rhythm / Female / Male / Developmental disabilities / Levodopa / Cognitive impairment / Genotype / Cognitive Function / Diurnal Variation / Neuropediatrics / Young Children / Autosomal Recessive / Neurosciences / Cognition disorders / Motor activity

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ICOS deficiency in patients with common variable immunodeficiency

Immunology / Adolescent / Clinical immunology / Humans / Child / Female / Clinical / Male / Pedigree / T lymphocytes / Genomic DNA / Genotype / Adult / B Lymphocytes / Base Sequence / Autosomal Recessive / Bacterial Infection / Immunoglobulins / Female / Clinical / Male / Pedigree / T lymphocytes / Genomic DNA / Genotype / Adult / B Lymphocytes / Base Sequence / Autosomal Recessive / Bacterial Infection / Immunoglobulins

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HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model

Enzyme Inhibitors / Gene expression / Multidisciplinary / Cerebellum / Mice / Animals / Histone Modification / PLoS one / Chromatin / Introns / Histones / Mouse Model / Microarray Analysis / Myocardium / Chromatin Immunoprecipitation / Western blot / Acetylation / Neurodegenerative Disease / Histone deacetylase inhibitor / Nervous System / Autosomal Recessive / Acute Toxicity / Cardiac Disease / Friedreich Ataxia / Gene expression profiling / Histone deacetylase inhibitors / Iron binding proteins / Animals / Histone Modification / PLoS one / Chromatin / Introns / Histones / Mouse Model / Microarray Analysis / Myocardium / Chromatin Immunoprecipitation / Western blot / Acetylation / Neurodegenerative Disease / Histone deacetylase inhibitor / Nervous System / Autosomal Recessive / Acute Toxicity / Cardiac Disease / Friedreich Ataxia / Gene expression profiling / Histone deacetylase inhibitors / Iron binding proteins

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Isolated sulfite oxidase deficiency

Ophthalmology / Magnetic Resonance Imaging / Family / Humans / Inborn errors of metabolism / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases

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Triosephosphate isomerase deficiency: New insights into an enigmatic disease

Genetics / Early Childhood / Energy Metabolism / Biological Sciences / Drosophila / Age / Mice / Animals / Physical sciences / Animal Model / Glycolysis / Lipid metabolism / Enzyme / Clinical Sciences / Model System / Triosephosphate Isomerase / Recombinant Protein / Autosomal Recessive / Catalytic Activity / Biochemistry and cell biology / Pentose Phosphate Pathway / Ad / Hemolytic Anemia / Age / Mice / Animals / Physical sciences / Animal Model / Glycolysis / Lipid metabolism / Enzyme / Clinical Sciences / Model System / Triosephosphate Isomerase / Recombinant Protein / Autosomal Recessive / Catalytic Activity / Biochemistry and cell biology / Pentose Phosphate Pathway / Ad / Hemolytic Anemia

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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome

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Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors

Atherosclerosis / Risk Management / Adolescent / Humans / Child / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Cardiovascular system / Adult / Cardiovascular Risk Factor / Angina pectoris / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Cardiovascular system / Adult / Cardiovascular Risk Factor / Angina pectoris / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive

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Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison

Atherosclerosis / Adolescent / Comparative Study / Cell Culture / Italy / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups

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Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison

Atherosclerosis / Adolescent / Comparative Study / Cell Culture / Italy / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups

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