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Metabolism, Inborn Errors
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
推出的年份: 1965
副标题
blood
cerebrospinal fluid
chemically induced
classification
complications
diagnosis
diagnostic imaging
diet therapy
drug therapy
economics
embryology
enzymology
epidemiology
ethnology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
parasitology
pathology
physiopathology
prevention and control
psychology
radiotherapy
rehabilitation
surgery
therapy
urine
veterinary
virology
树号:
C16.320.565, C18.452.648
MeSH 单一 ID:
D008661
进入的组:
Errors Metabolism, Inborn
Errors Metabolisms, Inborn
Inborn Errors Metabolism
Inborn Errors Metabolisms
Metabolisms, Inborn Errors
Metabolism Errors, Inborn
Error, Inborn Metabolism
Errors, Inborn Metabolism
Inborn Metabolism Error
Inborn Metabolism Errors
Metabolism Error, Inborn
Inborn Errors of Metabolism
Metabolism Inborn Error
Metabolism Inborn Errors
All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Adrenal Hyperplasia, Congenital [C16.320.033]
Alagille Syndrome [C16.320.051]
alpha 1-Antitrypsin Deficiency [C16.320.060]
Anemia, Hemolytic, Congenital [C16.320.070]
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Anemia, Hypoplastic, Congenital [C16.320.077]
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Ataxia Telangiectasia [C16.320.080]
Autoimmune Lymphoproliferative Syndrome [C16.320.089]
Blood Coagulation Disorders, Inherited [C16.320.099]
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Brugada Syndrome [C16.320.100]
CADASIL [C16.320.129]
Camurati-Engelmann Syndrome [C16.320.144]
Cardiomyopathy, Hypertrophic, Familial [C16.320.160]
CHARGE Syndrome [C16.320.165]
Cherubism [C16.320.170]
Chromosome Disorders [C16.320.180]
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Ciliopathies [C16.320.184]
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Costello Syndrome [C16.320.188]
Cystic Fibrosis [C16.320.190]
Donohue Syndrome [C16.320.215]
Dwarfism [C16.320.240]
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Eye Diseases, Hereditary [C16.320.290]
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Familial Multiple Lipomatosis [C16.320.298]
Frasier Syndrome [C16.320.306]
GATA2 Deficiency [C16.320.314]
Genetic Diseases, X-Linked [C16.320.322]
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Genetic Diseases, Y-Linked [C16.320.338]
Hajdu-Cheney Syndrome [C16.320.355]
Hemoglobinopathies [C16.320.365]
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Hereditary Autoinflammatory Diseases [C16.320.382]
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Heredodegenerative Disorders, Nervous System [C16.320.400]
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Hyper-IgM Immunodeficiency Syndrome [C16.320.413]
Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427]
Kallmann Syndrome [C16.320.467]
Kartagener Syndrome [C16.320.184.500.531]
Laminopathies [C16.320.488]
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Lennox Gastaut Syndrome [C16.320.495]
Loeys-Dietz Syndrome [C16.320.510]
Marfan Syndrome [C16.320.540]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
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Amino Acid Transport Disorders, Inborn [C16.320.565.151]
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Amyloidosis, Familial [C16.320.565.176]
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Brain Diseases, Metabolic, Inborn [C16.320.565.189]
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Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
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Cytochrome-c Oxidase Deficiency [C16.320.565.240]
Hyperbilirubinemia, Hereditary [C16.320.565.300]
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Lipid Metabolism, Inborn Errors [C16.320.565.398]
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Lysosomal Storage Diseases [C16.320.565.595]
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Metal Metabolism, Inborn Errors [C16.320.565.618]
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Peroxisomal Disorders [C16.320.565.663]
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Progeria [C16.320.565.753]
Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798]
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Renal Tubular Transport, Inborn Errors [C16.320.565.893]
Steroid Metabolism, Inborn Errors [C16.320.565.925]
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Muscular Dystrophies [C16.320.577]
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Myasthenic Syndromes, Congenital [C16.320.590]
Nail-Patella Syndrome [C16.320.600]
Neoplastic Syndromes, Hereditary [C16.320.700]
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Oculocerebrorenal Syndrome [C16.320.322.750]
Orofaciodigital Syndromes [C16.320.180.830.670]
Osteoarthropathy, Primary Hypertrophic [C16.320.718]
Osteochondrodysplasias [C16.320.728]
Osteogenesis Imperfecta [C16.320.737]
Pain Insensitivity, Congenital [C16.320.775]
Pelger-Huet Anomaly [C16.320.784]
Primary Immunodeficiency Diseases [C16.320.798]
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Pycnodysostosis [C16.320.565.595.800]
Renal Tubular Transport, Inborn Errors [C16.320.565.893]
Skin Diseases, Genetic [C16.320.850]
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Werner Syndrome [C16.320.925]
Yellow Nail Syndrome [C16.320.962]
All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Acid-Base Imbalance [C18.452.076]
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Bone Diseases, Metabolic [C18.452.104]
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Brain Diseases, Metabolic [C18.452.132]
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Calcium Metabolism Disorders [C18.452.174]
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DNA Repair-Deficiency Disorders [C18.452.284]
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Glucose Metabolism Disorders [C18.452.394]
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Hyperlactatemia [C18.452.479]
Iron Metabolism Disorders [C18.452.565]
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Lipid Metabolism Disorders [C18.452.584]
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Malabsorption Syndromes [C18.452.603]
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Metabolic Syndrome [C18.452.394.968.500.570]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
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Amino Acid Transport Disorders, Inborn [C18.452.648.151]
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Amyloidosis, Familial [C18.452.648.176]
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Brain Diseases, Metabolic, Inborn [C18.452.648.189]
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Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
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Hyperbilirubinemia, Hereditary [C18.452.648.300]
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Lipid Metabolism, Inborn Errors [C18.452.648.398]
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Lysosomal Storage Diseases [C18.452.648.595]
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Metal Metabolism, Inborn Errors [C18.452.648.618]
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Peroxisomal Disorders [C18.452.648.663]
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Progeria [C18.452.648.753]
Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798]
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Renal Tubular Transport, Inborn Errors [C18.452.648.893]
Steroid Metabolism, Inborn Errors [C18.452.648.925]
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Mitochondrial Diseases [C18.452.660]
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Phosphorus Metabolism Disorders [C18.452.750]
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Porphyrias [C18.452.811]
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Proteostasis Deficiencies [C18.452.845]
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Skin Diseases, Metabolic [C18.452.880]
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Wasting Syndrome [C18.452.915]
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Water-Electrolyte Imbalance [C18.452.950]
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