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Deficit
Deficit
Endothelial Fli1 Deficiency Impairs Vascular Homeostasis: A Role in Scleroderma Vasculopathy
Microcirculation / Immunohistochemistry / Humans / Permeability / Mice / Animals / American / Skin / Phenotype / Homeostasis / Endothelial cell / Deficiency / Deficit / Animals / American / Skin / Phenotype / Homeostasis / Endothelial cell / Deficiency / Deficit
Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy
Metabolism / Spectroscopy / Quality of life / Energy Metabolism / Humans / Blood Glucose / Female / Male / Heart rate / Exercise / Left Ventricular Dysfunction / Clinical Sciences / Middle Aged / Myocardium / Public health systems and services research / Spectrometry / Deficiency / Circulation / Physical Exercise / Hypertrophic Cardiomyopathy / Deficit / Oxygen Consumption / Exercise Tolerance / Blood Glucose / Female / Male / Heart rate / Exercise / Left Ventricular Dysfunction / Clinical Sciences / Middle Aged / Myocardium / Public health systems and services research / Spectrometry / Deficiency / Circulation / Physical Exercise / Hypertrophic Cardiomyopathy / Deficit / Oxygen Consumption / Exercise Tolerance
Genetic characteristics of myoadenylate deaminase deficiency
Genetics / Skeletal muscle biology / Comparative Study / Biopsy / DNA / Humans / Polymerase Chain Reaction / Frequency / Genetic determinism / Clinical Sciences / Deficiency / Neuromuscular diseases / Chi Square Distribution / Physical Exercise / Base Sequence / Deficit / Exercise Test / Neurosciences / Humans / Polymerase Chain Reaction / Frequency / Genetic determinism / Clinical Sciences / Deficiency / Neuromuscular diseases / Chi Square Distribution / Physical Exercise / Base Sequence / Deficit / Exercise Test / Neurosciences
Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency
Mitochondria / Medicine / Mitochondrial DNA / Humans / Mutation / Microcephaly / Female / Male / Infant / Newborn Infant / Mitochondrial Diseases / New England / Guanosine Triphosphate / Oxidative phosphorylation / Deficiency / Liver Failure / Deficit / New England Journalof Medicine / Protein Biosynthesis / Mitochondrial Proteins / Microcephaly / Female / Male / Infant / Newborn Infant / Mitochondrial Diseases / New England / Guanosine Triphosphate / Oxidative phosphorylation / Deficiency / Liver Failure / Deficit / New England Journalof Medicine / Protein Biosynthesis / Mitochondrial Proteins
Macrophage Phospholipid Transfer Protein Contributes Significantly to Total Plasma Phospholipid Transfer Activity and Its Deficiency Leads to Diminished Atherosclerotic Lesion Development
Atherosclerosis / Phospholipids / Macrophages / Probability / Mice / Female / Animals / Bone marrow / Apolipoprotein E / apolipoprotein A-I / Clinical Sciences / Mouse Model / Deficiency / Sensitivity and Specificity / Deficit / Reference Values / Knockout Mice / Total Cholesterol / Lipid Transfer Proteins / foam cells / Female / Animals / Bone marrow / Apolipoprotein E / apolipoprotein A-I / Clinical Sciences / Mouse Model / Deficiency / Sensitivity and Specificity / Deficit / Reference Values / Knockout Mice / Total Cholesterol / Lipid Transfer Proteins / foam cells
Macrophage Phospholipid Transfer Protein Contributes Significantly to Total Plasma Phospholipid Transfer Activity and Its Deficiency Leads to Diminished Atherosclerotic Lesion Development
Atherosclerosis / Phospholipids / Macrophages / Probability / Mice / Female / Animals / Bone marrow / Apolipoprotein E / apolipoprotein A-I / Clinical Sciences / Mouse Model / Deficiency / Sensitivity and Specificity / Deficit / Reference Values / Knockout Mice / Total Cholesterol / Lipid Transfer Proteins / foam cells / Female / Animals / Bone marrow / Apolipoprotein E / apolipoprotein A-I / Clinical Sciences / Mouse Model / Deficiency / Sensitivity and Specificity / Deficit / Reference Values / Knockout Mice / Total Cholesterol / Lipid Transfer Proteins / foam cells
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy
Endocrinology / Genetics / Functional Analysis / Cardiology / Hematology / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy
Endocrinology / Genetics / Functional Analysis / Cardiology / Hematology / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis
Glyceroluria with adrenocortical insufficiency, developmental delay and early death
Evolution / Humans / Male / Clinical Sciences / Newborn Infant / Glycerol / Adrenal Insufficiency / Deficiency / Deficit / Nino / Glycerol / Adrenal Insufficiency / Deficiency / Deficit / Nino
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency
Coma / Complication / Humans / Ketosis / Hyperglycemia / Female / Infant / Clinical Sciences / Deficiency / Deficit / Nino / Female / Infant / Clinical Sciences / Deficiency / Deficit / Nino
Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy
Metabolism / Spectroscopy / Quality of life / Energy Metabolism / Humans / Blood Glucose / Female / Male / Heart rate / Exercise / Left Ventricular Dysfunction / Clinical Sciences / Middle Aged / Myocardium / Public health systems and services research / Spectrometry / Deficiency / Circulation / Physical Exercise / Hypertrophic Cardiomyopathy / Deficit / Oxygen Consumption / Exercise Tolerance / Blood Glucose / Female / Male / Heart rate / Exercise / Left Ventricular Dysfunction / Clinical Sciences / Middle Aged / Myocardium / Public health systems and services research / Spectrometry / Deficiency / Circulation / Physical Exercise / Hypertrophic Cardiomyopathy / Deficit / Oxygen Consumption / Exercise Tolerance
C1q Inhibits Immune Complex-Induced Interferon-alpha Production in Plasmacytoid Dendritic Cells A Novel Link Between C1q Deficiency and Systemic Lupus Erythematosus Pathogenesis
Rheumatology / Immunology / Production / Dendritic Cells / Humans / Systemic Lupus Erythematosus / Arthritis / Risk factors / Clinical Sciences / Public health systems and services research / Deficiency / Tumor necrosis factor-alpha / Risk Factors / Deficit / Immune Complex / Interleukin / Interferon Alpha / Systemic Lupus Erythematosus / Arthritis / Risk factors / Clinical Sciences / Public health systems and services research / Deficiency / Tumor necrosis factor-alpha / Risk Factors / Deficit / Immune Complex / Interleukin / Interferon Alpha
Boron deficiency in maize
Biological Sciences / Environmental Sciences / Maize / Fertilization / Gramineae / Deficiency / Soil management / Androecium / Male Sterility / Grain Yield / Deficit / Flor / Fertilisation / Dry Weight / Deficiency / Soil management / Androecium / Male Sterility / Grain Yield / Deficit / Flor / Fertilisation / Dry Weight
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
Endocrinology / Nutrition / Molecular Biology / Treatment / Pregnancy / Humans / Mutation / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Congenital Adrenal Hyperplasia / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit / Humans / Mutation / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Congenital Adrenal Hyperplasia / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit
Renal magnesium loss causing hypomagnesaemia and autonomous hyperparathyroidism
Humans / Magnesium / Kidney / Metabolic diseases / Female / Clinical Sciences / Middle Aged / Deficiency / Autonomous / Hyperparathyroidism / Deficit / Clinical Sciences / Middle Aged / Deficiency / Autonomous / Hyperparathyroidism / Deficit
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
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