Deficit - Page 2 | DATOSPDF

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

Download

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

Download

Immunoproteasome deficiency alters retinal proteasome’s response to stress

Immune response / Aging / Neurochemistry / Stress / Oxidative Stress / Retinal Pigment Epithelium / Age / Mice / Animals / Cell Death / Visual System / Eye / Hydrogen Peroxide / Epithelial cells / Analysis of Variance / Deficiency / Cysteine endopeptidases / Complement / Deficit / Neurosciences / Oxidants / Subunit / Gene Expression Regulation / Retinal Pigment Epithelium / Age / Mice / Animals / Cell Death / Visual System / Eye / Hydrogen Peroxide / Epithelial cells / Analysis of Variance / Deficiency / Cysteine endopeptidases / Complement / Deficit / Neurosciences / Oxidants / Subunit / Gene Expression Regulation

Download

Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy

Magnetic Resonance Imaging / Evolution / Pediatric Neurology / Brain / Humans / Female / Infant / Differential Diagnosis / Enzyme / Atrophy / Urea Cycle / Deficiency / X ray Computed Tomography / Deficit / Nuclear Magnetic Resonance Imaging / Neurosciences / hyperammonemia / Female / Infant / Differential Diagnosis / Enzyme / Atrophy / Urea Cycle / Deficiency / X ray Computed Tomography / Deficit / Nuclear Magnetic Resonance Imaging / Neurosciences / hyperammonemia

Download

Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy

Magnetic Resonance Imaging / Evolution / Pediatric Neurology / Brain / Humans / Female / Infant / Differential Diagnosis / Enzyme / Atrophy / Urea Cycle / Deficiency / X ray Computed Tomography / Deficit / Nuclear Magnetic Resonance Imaging / Neurosciences / hyperammonemia / Female / Infant / Differential Diagnosis / Enzyme / Atrophy / Urea Cycle / Deficiency / X ray Computed Tomography / Deficit / Nuclear Magnetic Resonance Imaging / Neurosciences / hyperammonemia

Download

Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury

Biological Sciences / Mice / Vasculitis / Animals / Lead / American / Hyperplasia / In Vivo / Nitric Oxide Synthase / Deficiency / Cell Proliferation / Deficit / Wounds and Injuries / Aorta / Vascular Injury / Superoxides / Intimal hyperplasia / American / Hyperplasia / In Vivo / Nitric Oxide Synthase / Deficiency / Cell Proliferation / Deficit / Wounds and Injuries / Aorta / Vascular Injury / Superoxides / Intimal hyperplasia

Download

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Molecular Biology / Treatment / Pregnancy / Humans / Mutation / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit

Download

Congenital Adrenal Hyperplasia Owing to 21-HYDROXYLASE Deficiency

Density / Pregnancy / Humans / Female / Male / Clinical Sciences / Sodium / Congenital Adrenal Hyperplasia / Adrenal cortex / Deficiency / Body Height / Deficit / Glucocorticoids / Adrenalectomy / Hormone Replacement Therapy / Clinical Sciences / Sodium / Congenital Adrenal Hyperplasia / Adrenal cortex / Deficiency / Body Height / Deficit / Glucocorticoids / Adrenalectomy / Hormone Replacement Therapy

Download

Generalized epimerase deficiency galactosemia

Pediatrics / Tropical Medicine / Humans / Male / Infant / Liver Function / Enzyme / Deficiency / Developmental delay / Deficit / Clinical Signs / Liver Function / Enzyme / Deficiency / Developmental delay / Deficit / Clinical Signs

Download

ETB receptor deficiency causes salt-sensitive hypertension

Molecular Medicine / Hypertension / Salt / Animals / Phenotype / Genotype / Rats / Sodium / Sensitivity / Deficiency / Voltage-Gated Sodium Channels / Endothelin-1 / Salts / Deficit / Creatinine / Genotype / Rats / Sodium / Sensitivity / Deficiency / Voltage-Gated Sodium Channels / Endothelin-1 / Salts / Deficit / Creatinine

Download

Comparison of Surgical Care Deficiencies between US Civil War Hospitals and Present-Day Hospitals in Sierra Leone

Surgery / Civil War / Treatment / Quality of Mental Health Care / Developing Countries / Sierra Leone / American Civil War / Public Health / Comparative Study / Medicine / General Surgery / War / X Rays / Humans / Developing Country / World / United States / Care / Dislocations / Data Collection / Clinical Sciences / Deficiency / Public Art Hospitals / Deficit / Ministry of Health / Sierra Leone / American Civil War / Public Health / Comparative Study / Medicine / General Surgery / War / X Rays / Humans / Developing Country / World / United States / Care / Dislocations / Data Collection / Clinical Sciences / Deficiency / Public Art Hospitals / Deficit / Ministry of Health

Download

Pregnancy and protein C deficiency

Pregnancy / Humans / Heparin / Female / Pulmonary Embolism / Thromboembolism / Coumarins / Adult / Deficiency / Deficit / Gestation / Fetal death / Thromboembolism / Coumarins / Adult / Deficiency / Deficit / Gestation / Fetal death

Download

Mitochondrial Complex I Encephalomyopathy and Cerebral 5-Methyltetrahydrofolate Deficiency

Magnetic Resonance Imaging / Treatment / Mitochondria / Folic acid / Humans / Child / Male / Deficiency / Neuropediatrics / Deficit / Neurosciences / Child / Male / Deficiency / Neuropediatrics / Deficit / Neurosciences

Download

LKB1 Deficiency Sensitizes Mice to Carcinogen-Induced Tumorigenesis

Cancer / Tobacco / Signal Transduction / Lung Cancer / Cell line / Toxicity / Mice / Animals / Squamous Cell Carcinoma / Cell Polarity / Carcinogens / Epidermis / Tumor Suppressor Gene / Deficiency / Protein Kinase / Deficit / Carcinogen / retinoblastoma protein (RB1). / Skin Neoplasms / Toxicity / Mice / Animals / Squamous Cell Carcinoma / Cell Polarity / Carcinogens / Epidermis / Tumor Suppressor Gene / Deficiency / Protein Kinase / Deficit / Carcinogen / retinoblastoma protein (RB1). / Skin Neoplasms

Download

A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity

Clinical Sciences / Deficiency / Deficit

Download

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Genetics / Family / Cystic Fibrosis / Humans / Child / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data

Download