Autosomal Recessive - Page 2

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Genetics / Cognitive Science / Membrane Proteins / Neurogenetics / Intellectual Disability / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences

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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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Succinic Semialdehyde Dehydrogenase Deficiency: GABAB receptor-mediated function

Cognitive Science / Genetic counseling / Mental Retardation / Brain / Mice / Animals / Animal Model / Differential Diagnosis / Synaptic Transmission / Time Dependent / Protein Expression / Autosomal Recessive / Brain Chemistry / Neurosciences / Binding Site / Gamma-Aminobutyric Acid / Knock Out Mice / Animals / Animal Model / Differential Diagnosis / Synaptic Transmission / Time Dependent / Protein Expression / Autosomal Recessive / Brain Chemistry / Neurosciences / Binding Site / Gamma-Aminobutyric Acid / Knock Out Mice

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

M Rna Processing / Biological Sciences / Brain / Humans / Cerebellum / Mutation / Autosomal Recessive / Syndrome / Mutation / Autosomal Recessive / Syndrome

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Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

Quality of life / Brain development / Mental Retardation / Brain / Humans / Child / Female / Enzyme / Lancet / Brain atrophy / White matter / Valproic Acid / Seizures / Autosomal Recessive / Sodium Benzoate / Dextromethorphan / Breath Test / DNA sequence / Child / Female / Enzyme / Lancet / Brain atrophy / White matter / Valproic Acid / Seizures / Autosomal Recessive / Sodium Benzoate / Dextromethorphan / Breath Test / DNA sequence

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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

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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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Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia

Cognitive Science / Neurology / Magnetic Resonance Imaging / Treatment Outcome / Adolescent / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment

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Congenital Transcobalamin II Deficiency Due to Errors in RNA Editing

RNA Editing / Humans / Female / Male / Infant / Clinical Sciences / Genomic DNA / Genetic Disorder / Human Fibroblasts / Autosomal Recessive / Protein Binding / Full Length Movies / Clinical Sciences / Genomic DNA / Genetic Disorder / Human Fibroblasts / Autosomal Recessive / Protein Binding / Full Length Movies

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Biopterin responsive phenylalanine hydroxylase deficiency

Genetics / Adolescent / Humans / Child / Female / Phenylketonuria / Male / Infant / Enzyme / Clinical Sciences / Pilot study / Spectrum / Adult / Phenylalanine / Autosomal Recessive / Phenylalanine hydroxylase / Tyrosine / Phenylketonuria / Male / Infant / Enzyme / Clinical Sciences / Pilot study / Spectrum / Adult / Phenylalanine / Autosomal Recessive / Phenylalanine hydroxylase / Tyrosine

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A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs

Early Childhood / Dogs / Female / Animals / Male / Retinal Degeneration / Central Nervous System / Bone marrow / Glycosaminoglycan / Clinical Sciences / Glycosaminoglycans / Heparan Sulphate / Autosomal Recessive / Clinical Signs / Purkinje cell / Retinal Degeneration / Central Nervous System / Bone marrow / Glycosaminoglycan / Clinical Sciences / Glycosaminoglycans / Heparan Sulphate / Autosomal Recessive / Clinical Signs / Purkinje cell

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

Skeletal muscle biology / Brain / Humans / Kidney / Liver / Pancreas / Male / tESTIS / Enzyme / Clinical Sciences / Aged / Skeletal Muscle / Myocardium / Protein Expression / Enzyme activity / Metabolic Acidosis / Autosomal Recessive / Acids / Pancreas / Male / tESTIS / Enzyme / Clinical Sciences / Aged / Skeletal Muscle / Myocardium / Protein Expression / Enzyme activity / Metabolic Acidosis / Autosomal Recessive / Acids

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Molecular genetics of HMG-CoA lyase deficiency

Molecular Biology / Saudi Arabia / Molecular Genetics / Protein Structure and Function / Crystal structure / Humans / Mutation / Iberian Peninsula / Enzyme / Clinical Sciences / Spectrum / Hot Spot / First Year / Genetic Disorder / Enzyme activity / Amino Acid Sequence / Autosomal Recessive / Humans / Mutation / Iberian Peninsula / Enzyme / Clinical Sciences / Spectrum / Hot Spot / First Year / Genetic Disorder / Enzyme activity / Amino Acid Sequence / Autosomal Recessive

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Molecular characterization of galactokinase deficiency in Japanese patients

Genetics / Human Genetics / Japan / Adolescent / Humans / Infant / Genome Analysis / Clinical Sciences / Newborn Infant / Hot Spot / Genomic DNA / Molecular Characterization / Insertion sequence / Amino Acid Profile / Base Sequence / Autosomal Recessive / Nucleotides / Infant / Genome Analysis / Clinical Sciences / Newborn Infant / Hot Spot / Genomic DNA / Molecular Characterization / Insertion sequence / Amino Acid Profile / Base Sequence / Autosomal Recessive / Nucleotides

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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

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