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Trimethylaminuria (fish odor syndrome): Genotype characterization among Portuguese patients
Genetics / Portugal / Humans / Child / Female / Inborn errors of metabolism / Male / Genetic Association Studies / Infant / Gene / Phenotype / Middle Aged / Genotype / Amino Acid Sequence / Inborn errors of metabolism / Male / Genetic Association Studies / Infant / Gene / Phenotype / Middle Aged / Genotype / Amino Acid Sequence
Evidence of a selective epitope loss of anti-transglutaminase immunoreactivity in gluten-free diet celiac sera: A new tool to distinguish disease-specific immunoreactivities
Immunology / Adolescent / Clinical immunology / Humans / Child / Celiac Disease / Female / Male / Infant / Middle Aged / Adult / Epitopes / Autoantibodies / Full Length Movies / Transglutaminases / Gluten Free Diet / Autoantigens / Celiac Disease / Female / Male / Infant / Middle Aged / Adult / Epitopes / Autoantibodies / Full Length Movies / Transglutaminases / Gluten Free Diet / Autoantigens
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
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
MAN1B1 Deficiency: An Unexpected CDG-II
Genetics / Molecular Biology / Genomics / Adolescent / Intellectual Disability / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome
Medulloblastoma or cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease)?
Magnetic Resonance Imaging / Pediatric Neurology / Humans / Cerebellum / Medulloblastoma / Male / Infant / Differential Diagnosis / Gadolinium / Ganglioneuroma / Drug Therapy / X ray Computed Tomography / Neurosciences / Male / Infant / Differential Diagnosis / Gadolinium / Ganglioneuroma / Drug Therapy / X ray Computed Tomography / Neurosciences
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency
NMR Spectroscopy / Mitochondria / Magnetic Resonance Spectroscopy / Adolescent / Biological Sciences / Humans / Mice / Animals / Physical sciences / Infant / Clinical Sciences / Newborn Infant / Gas Chromatography/mass Spectrometry / Biological markers / Citric Acid / Sugar Alcohols / Biochemistry and cell biology / Molecular Structure / Pentose Phosphate Pathway / Humans / Mice / Animals / Physical sciences / Infant / Clinical Sciences / Newborn Infant / Gas Chromatography/mass Spectrometry / Biological markers / Citric Acid / Sugar Alcohols / Biochemistry and cell biology / Molecular Structure / Pentose Phosphate Pathway
Interferon alfa-2a in Japanese encephalitis: a randomised double-blind placebo-controlled trial
Vietnam / Adolescent / Humans / Child / Female / Male / Infant / Randomised Controlled Trial / Japanese encephalitis / Lancet / Side Effect / In Vitro Studies / Antiviral Activity / Recombinant Proteins / Japanese Encephalitis Virus / Antiviral Agents / Interferon Alpha / Male / Infant / Randomised Controlled Trial / Japanese encephalitis / Lancet / Side Effect / In Vitro Studies / Antiviral Activity / Recombinant Proteins / Japanese Encephalitis Virus / Antiviral Agents / Interferon Alpha
Burden of cerebral malaria in central India (2004-2007)
Adolescent / India / Acute renal failure / Prospective studies / Humans / Child / Female / Male / Infant / Hepatic Encephalopathy / Aged / Middle Aged / Adult / Time Factors / Plasmodium falciparum / Cost of Illness / Cerebral Malaria / Multiple Organ Failure / The American / Child / Female / Male / Infant / Hepatic Encephalopathy / Aged / Middle Aged / Adult / Time Factors / Plasmodium falciparum / Cost of Illness / Cerebral Malaria / Multiple Organ Failure / The American
Adenine Phosphoribosyltransferase Deficiency
Kidney diseases / Enzyme Inhibitors / Adolescent / Humans / Child / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests
Adenine phosphoribosyltransferase deficiency in children
Kidney diseases / Enzyme Inhibitors / Adolescent / Humans / Child / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests
Use of oral midazolam in pediatric upper gastrointestinal endoscopy
Pediatrics / Adolescent / Prospective studies / Humans / Child / Female / Male / Infant / Gastrointestinal Endoscopy / Midazolam / Female / Male / Infant / Gastrointestinal Endoscopy / Midazolam
Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
Energy Metabolism / Biological Sciences / Saccharomyces cerevisiae / Humans / Mutation / Female / Male / Infant / Alternative splicing / Siblings / Pedigree / Newborn Infant / Oxidative phosphorylation / Phosphates / Alternative Splicing / Amino Acid Sequence / Hypertrophic Cardiomyopathy / Human Fibroblasts / Adenosine Triphosphate / The American / Mitochondrial Proteins / Female / Male / Infant / Alternative splicing / Siblings / Pedigree / Newborn Infant / Oxidative phosphorylation / Phosphates / Alternative Splicing / Amino Acid Sequence / Hypertrophic Cardiomyopathy / Human Fibroblasts / Adenosine Triphosphate / The American / Mitochondrial Proteins
International Spread of an Epidemic Population of Salmonella enterica Serotype Kentucky ST198 Resistant to Ciprofloxacin
Global Health / Infectious Diseases / Adolescent / France / England / Middle East / Biological Sciences / Denmark / Travel / Humans / Child / Mutation / Wales / United States / Female / Animals / Male / Young Adult / Infant / Aged / Middle Aged / Adult / Chickens / Spices / Pulsed field gel electrophoresis (PFGE) / Ciprofloxacin / Multilocus sequence typing / Middle East / Biological Sciences / Denmark / Travel / Humans / Child / Mutation / Wales / United States / Female / Animals / Male / Young Adult / Infant / Aged / Middle Aged / Adult / Chickens / Spices / Pulsed field gel electrophoresis (PFGE) / Ciprofloxacin / Multilocus sequence typing
Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency
Genetics / STEROIDS / Pregnancy / Humans / Mutation / Female / Male / Infant / Phenotype / Clinical Sciences / Newborn Infant / Synostosis / Adult / Deficiency / Genitalia / Deficit / Syndrome / Female / Male / Infant / Phenotype / Clinical Sciences / Newborn Infant / Synostosis / Adult / Deficiency / Genitalia / Deficit / Syndrome
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication
Genetics / Molecular Biology / Humans / Kidney / Female / Clinical Genetics / Infant / Gene Duplication / Deafness / Clinical Sciences / Newborn Infant / Syndrome / Hypoparathyroidism / Clinical Genetics / Infant / Gene Duplication / Deafness / Clinical Sciences / Newborn Infant / Syndrome / Hypoparathyroidism
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