Autosomal Recessive

Lethal familial protracted diarrhoea

Humans / Female / Male / Infant / Steady state / Clinical Sciences / Newborn Infant / Public health systems and services research / Body Weight / Autosomal Recessive / Small Intestine / Clinical Sciences / Newborn Infant / Public health systems and services research / Body Weight / Autosomal Recessive / Small Intestine

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 / Young Children / Autosomal Recessive / Cognition disorders / Motor activity / Humans / Child / Circadian Rhythm / Female / Male / Developmental disabilities / Levodopa / Cognitive impairment / Genotype / Cognitive Function / Diurnal Variation / Young Children / Autosomal Recessive / Cognition disorders / Motor activity

Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

Humans / Female / Male / Infant / Pedigree / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome

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

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

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

Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolism

Genetics / Mitochondria / Humans / Enzyme / Clinical Sciences / Ethnic Group / Autosomal Recessive / Ketone Bodies / Age of Onset / Ethnic Group / Autosomal Recessive / Ketone Bodies / Age of Onset

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 / DNA mutational analysis / Child preschool / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / DNA mutational analysis / Child preschool

Lower eyelid reconstruction with tarsoconjunctival flap in a xeroderma pigmentosum patient

DNA repair / Genetic Disorder / Basal cell carcinoma / Autosomal Recessive / Xeroderma Pigmentosum

Efectos de un programa de ejercicio físico supervisado domiciliario sobre la capacidad funcional en pacientes adultos con fibrosis quística. Estudio preliminar

Cystic Fibrosis / Lung Function / Functional Capacity / Body Composition / Respiratory System / Physical Exercise / Autosomal Recessive / Muscular strength / Physical Exercise / Autosomal Recessive / Muscular strength

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

Genetics / Nutrition / Early Childhood / Dogs / Models / Female / Animals / Male / Retinal Degeneration / Central Nervous System / Bone marrow / Glycosaminoglycan / Clinical Sciences / Glycosaminoglycans / Deficiency / Type / Heparan Sulphate / Autosomal Recessive / Deficit / Clinical Signs / Purkinje cell / Magnetic resonance image / Female / Animals / Male / Retinal Degeneration / Central Nervous System / Bone marrow / Glycosaminoglycan / Clinical Sciences / Glycosaminoglycans / Deficiency / Type / Heparan Sulphate / Autosomal Recessive / Deficit / Clinical Signs / Purkinje cell / Magnetic resonance image

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

Genetics / Nutrition / Early Childhood / Dogs / Models / Female / Animals / Male / Retinal Degeneration / Central Nervous System / Bone marrow / Glycosaminoglycan / Clinical Sciences / Glycosaminoglycans / Deficiency / Type / Heparan Sulphate / Autosomal Recessive / Deficit / Clinical Signs / Purkinje cell / Magnetic resonance image / Female / Animals / Male / Retinal Degeneration / Central Nervous System / Bone marrow / Glycosaminoglycan / Clinical Sciences / Glycosaminoglycans / Deficiency / Type / Heparan Sulphate / Autosomal Recessive / Deficit / Clinical Signs / Purkinje cell / Magnetic resonance image

Colestasias Familiares: Una Causa Común de Hiperbilirrubinemia Conjugada

Genetics / Autosomal Recessive / Clinical Presentation / Biliary Atresia / Laboratory Tests

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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