Autosomal Recessive

Interleukin-1β regulates CFTR expression in human intestinal T84 cells

Cystic Fibrosis / Inflammation / Gene expression / Protein Tyrosine Kinase / Clinical Sciences / Chloride Channel / Protein Expression / Autosomal Recessive / Biochemistry and cell biology / Chloride Channel / Protein Expression / Autosomal Recessive / Biochemistry and cell biology

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

Hepatectomía derecha extendida por colangiocarcinoma intrahepático en un paciente con síndrome de Dubin-Johnson

Ultrasound / Autosomal Recessive / Postoperative Period / Liver Tumor

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

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

Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth

Genetics / Molecular Epidemiology / Humans / Mutation / genetic Counselling / Neurologia / Conduction Velocity / CHarcot Marie Tooth / Autosomal Recessive / Molecular Diagnosis / Neurología / Charcot Marie Tooth Disease / Genetic Markers / Median Nerve / Neurologia / Conduction Velocity / CHarcot Marie Tooth / Autosomal Recessive / Molecular Diagnosis / Neurología / Charcot Marie Tooth Disease / Genetic Markers / Median Nerve

Carotid Rete Mirabile and Pseudoxanthoma Elasticum: An Accidental Association?

Blindness / Humans / Female / Connective tissue / Clinical Sciences / Adult / Genetic variation / Metabolic Disorder / Autosomal Recessive / Adult / Genetic variation / Metabolic Disorder / Autosomal Recessive

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 / 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

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 / 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

Quistes renales, manifestación de diversas patologías

Genetics / Tuberous sclerosis / Kidney Disease / Autosomal Recessive

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

Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency

Pediatric Cardiology / Echocardiography / Case Report / Humans / Electron Transfer / Male / Infant / Differential Diagnosis / Newborn Screening / Myocardium / Fatty Acid / Biological markers / Amino Acid Profile / Metabolic Acidosis / Cardiomyopathies / Autosomal Recessive / Mass Spectrometer / Male / Infant / Differential Diagnosis / Newborn Screening / Myocardium / Fatty Acid / Biological markers / Amino Acid Profile / Metabolic Acidosis / Cardiomyopathies / Autosomal Recessive / Mass Spectrometer

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

Dopamine beta-hydroxylase deficiency

Autonomic Nervous System / Dopamine / Humans / Mutation / Blood Pressure / Differential Diagnosis / Prognosis / Autosomal Recessive / Orthostatic intolerance / Orthostatic hypotension / Differential Diagnosis / Prognosis / Autosomal Recessive / Orthostatic intolerance / Orthostatic hypotension

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

Genetics / Nutrition / Skeletal muscle biology / Gene expression / Brain / Humans / Kidney / Liver / Pancreas / Male / Genetic determinism / tESTIS / Enzyme / Clinical Sciences / Aged / Skeletal Muscle / Myocardium / Protein Expression / Enzyme activity / Metabolic Acidosis / Autosomal Recessive / Acids / HMG / Humans / Kidney / Liver / Pancreas / Male / Genetic determinism / tESTIS / Enzyme / Clinical Sciences / Aged / Skeletal Muscle / Myocardium / Protein Expression / Enzyme activity / Metabolic Acidosis / Autosomal Recessive / Acids / HMG

Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth

Genetics / Molecular Epidemiology / Humans / Mutation / genetic Counselling / Neurologia / Conduction Velocity / CHarcot Marie Tooth / Autosomal Recessive / Molecular Diagnosis / Neurología / Charcot Marie Tooth Disease / Genetic Markers / Median Nerve / Neurologia / Conduction Velocity / CHarcot Marie Tooth / Autosomal Recessive / Molecular Diagnosis / Neurología / Charcot Marie Tooth Disease / Genetic Markers / Median Nerve

Enfermedad de Charcot-Marie-Tooth: revisión con énfasis en la fisiopatología del pie cavo

Genetics / Precambrian / vitamin C / Magnetic Resonance / CHarcot Marie Tooth / Autosomal Recessive / Charcot Marie Tooth Disease / Nerve Conduction Velocity / Autosomal Recessive / Charcot Marie Tooth Disease / Nerve Conduction Velocity

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