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Alpha 1-antitrypsin deficiency

Index Alpha 1-antitrypsin deficiency

Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1]

85 relations: Allele, Alpha-1 antitrypsin, Antibiotic, Asian people, Asthma, Autoimmune hepatitis, Bladder cancer, Blister, Blood test, Bronchiectasis, Bronchodilator, Cancer, Chronic obstructive pulmonary disease, Cigarette, Cirrhosis, Corticosteroid, Crackles, Diastase, Dominance (genetics), Elastase, Electrophoresis, ELISA, Endoplasmic reticulum, Enzyme, Ethnic groups in Europe, Gallbladder cancer, Gallstone, Genetic disorder, Genetic testing, Genotype, Glutamic acid, Gram, Granulomatosis with polyangiitis, Hepatitis, Hepatocellular carcinoma, Iberian Peninsula, Immunodiffusion, Inflammation, Influenza vaccine, Intravenous therapy, Isoelectric focusing, Isoelectric point, Jaundice, Life expectancy, Litre, Liver, Liver biopsy, Liver disease, Liver failure, Liver transplantation, ..., Lund University, Lung cancer, Lung transplantation, Lymphoma, Lysine, Medical genetics, Membranoproliferative glomerulonephritis, Methionine, Mutation, Neonatal jaundice, Nephelometer, Neutrophil elastase, Pancreatitis, Panniculitis, Periodic acid–Schiff stain, Pneumococcal vaccine, Pneumothorax, Polymer, Polymerization, Primary sclerosing cholangitis, Prolapse, Proteasome, Pulmonology, Redox, Respiratory disease, Respiratory tract, Respiratory tract infection, Rhonchi, Shortness of breath, Sulfoxide, Sweden, Tobacco smoking, Turbidimetry, Wheeze, Zygosity. Expand index (35 more) »

Allele

An allele is a variant form of a given gene.

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Alpha-1 antitrypsin

Alpha-1-antitrypsin or α1-antitrypsin (A1AT, A1A, or AAT) is a protein belonging to the serpin superfamily.

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Antibiotic

An antibiotic (from ancient Greek αντιβιοτικά, antibiotiká), also called an antibacterial, is a type of antimicrobial drug used in the treatment and prevention of bacterial infections.

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Asian people

Asian people or Asiatic peopleUnited States National Library of Medicine.

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Asthma

Asthma is a common long-term inflammatory disease of the airways of the lungs.

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Autoimmune hepatitis

Autoimmune hepatitis, formerly called lupoid hepatitis, is a chronic, autoimmune disease of the liver that occurs when the body's immune system attacks liver cells causing the liver to be inflamed.

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Bladder cancer

Bladder cancer is any of several types of cancer arising from the tissues of the urinary bladder.

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Blister

A blister is a small pocket of body fluid (lymph, serum, plasma, blood, or pus) within the upper layers of the skin, typically caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection.

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Blood test

A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a hypodermic needle, or via fingerprick.

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Bronchiectasis

Bronchiectasis is a disease in which there is permanent enlargement of parts of the airways of the lung.

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Bronchodilator

A bronchodilator is a substance that dilates the bronchi and bronchioles, decreasing resistance in the respiratory airway and increasing airflow to the lungs.

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Cancer

Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.

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Chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term breathing problems and poor airflow.

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Cigarette

A cigarette is a narrow cylinder containing tobacco that is rolled into thin paper for smoking.

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Cirrhosis

Cirrhosis is a condition in which the liver does not function properly due to long-term damage.

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Corticosteroid

Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex of vertebrates, as well as the synthetic analogues of these hormones.

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Crackles

Crackles, crepitations, or rales are the clicking, rattling, or crackling noises that may be made by one or both lungs of a human with a respiratory disease during inhalation.

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Diastase

A diastase (from Greek διάστασις, "separation") is any one of a group of enzymes that catalyses the breakdown of starch into maltose.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Elastase

In molecular biology, elastase is an enzyme from the class of proteases (peptidases) that break down proteins.

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Electrophoresis

Electrophoresis (from the Greek "Ηλεκτροφόρηση" meaning "to bear electrons") is the motion of dispersed particles relative to a fluid under the influence of a spatially uniform electric field.

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ELISA

The enzyme-linked immunosorbent assay (ELISA) is a test that uses antibodies and color change to identify a substance.

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Endoplasmic reticulum

The endoplasmic reticulum (ER) is a type of organelle found in eukaryotic cells that forms an interconnected network of flattened, membrane-enclosed sacs or tube-like structures known as cisternae.

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Enzyme

Enzymes are macromolecular biological catalysts.

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Ethnic groups in Europe

The Indigenous peoples of Europe are the focus of European ethnology, the field of anthropology related to the various indigenous groups that reside in the nations of Europe.

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Gallbladder cancer

Gallbladder cancer is a relatively uncommon cancer.

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Gallstone

A gallstone is a stone formed within the gallbladder out of bile components. The term cholelithiasis may refer to the presence of gallstones or to the diseases caused by gallstones. Most people with gallstones (about 80%) never have symptoms. When a gallstone blocks the bile duct, a crampy pain in the right upper part of the abdomen, known as biliary colic (gallbladder attack) can result. This happens in 1–4% of those with gallstones each year. Complications of gallstones may include inflammation of the gallbladder (cholecystitis), inflammation of the pancreas (pancreatitis), jaundice, and infection of a bile duct (cholangitis). Symptoms of these complications may include pain of more than five hours duration, fever, yellowish skin, vomiting, dark urine, and pale stools. Risk factors for gallstones include birth control pills, pregnancy, a family history of gallstones, obesity, diabetes, liver disease, or rapid weight loss. The bile components that form gallstones include cholesterol, bile salts, and bilirubin. Gallstones formed mainly from cholesterol are termed cholesterol stones, and those mainly from bilirubin are termed pigment stones. Gallstones may be suspected based on symptoms. Diagnosis is then typically confirmed by ultrasound. Complications may be detected on blood tests. The risk of gallstones may be decreased by maintaining a healthy weight through sufficient exercise and eating a healthy diet. If there are no symptoms, treatment is usually not needed. In those who are having gallbladder attacks, surgery to remove the gallbladder is typically recommended. This can be carried out either through several small incisions or through a single larger incision, usually under general anesthesia. In rare cases when surgery is not possible medication may be used to try to dissolve the stones or lithotripsy to break down the stones. In developed countries, 10–15% of adults have gallstones. Rates in many parts of Africa, however, are as low as 3%. Gallbladder and biliary related diseases occurred in about 104 million people (1.6%) in 2013 and they resulted in 106,000 deaths. Women more commonly have stones than men and they occur more commonly after the age of 40. Certain ethnic groups have gallstones more often than others. For example, 48% of Native Americans have gallstones. Once the gallbladder is removed, outcomes are generally good.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Genotype

The genotype is the part of the genetic makeup of a cell, and therefore of an organism or individual, which determines one of its characteristics (phenotype).

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Glutamic acid

Glutamic acid (symbol Glu or E) is an α-amino acid with formula.

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Gram

The gram (alternative spelling: gramme; SI unit symbol: g) (Latin gramma, from Greek γράμμα, grámma) is a metric system unit of mass.

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Granulomatosis with polyangiitis

Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis (WG), is a long-term systemic disorder that involves both granulomatosis and polyangiitis.

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Hepatitis

Hepatitis is inflammation of the liver tissue.

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Hepatocellular carcinoma

Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults, and is the most common cause of death in people with cirrhosis.

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Iberian Peninsula

The Iberian Peninsula, also known as Iberia, is located in the southwest corner of Europe.

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Immunodiffusion

Immunodiffusion is a diagnostic test which involves diffusion through a substance such as agar which is generally soft gel agar(1%) or agarose(1%), used for the detection of antibodies or antigen.

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Inflammation

Inflammation (from inflammatio) is part of the complex biological response of body tissues to harmful stimuli, such as pathogens, damaged cells, or irritants, and is a protective response involving immune cells, blood vessels, and molecular mediators.

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Influenza vaccine

Influenza vaccines, also known as flu shots or flu jabs, are vaccines that protect against infection by Influenza viruses.

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Intravenous therapy

Intravenous therapy (IV) is a therapy that delivers liquid substances directly into a vein (intra- + ven- + -ous).

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Isoelectric focusing

Isoelectric focusing (IEF), also known as electrofocusing, is a technique for separating different molecules by differences in their isoelectric point (pI).

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Isoelectric point

The isoelectric point (pI, pH(I), IEP), is the pH at which a particular molecule carries no net electrical charge or is electrically neutral in the statistical mean.

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Jaundice

Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and whites of the eyes due to high bilirubin levels.

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Life expectancy

Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, its current age and other demographic factors including gender.

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Litre

The litre (SI spelling) or liter (American spelling) (symbols L or l, sometimes abbreviated ltr) is an SI accepted metric system unit of volume equal to 1 cubic decimetre (dm3), 1,000 cubic centimetres (cm3) or 1/1,000 cubic metre. A cubic decimetre (or litre) occupies a volume of 10 cm×10 cm×10 cm (see figure) and is thus equal to one-thousandth of a cubic metre. The original French metric system used the litre as a base unit. The word litre is derived from an older French unit, the litron, whose name came from Greek — where it was a unit of weight, not volume — via Latin, and which equalled approximately 0.831 litres. The litre was also used in several subsequent versions of the metric system and is accepted for use with the SI,, p. 124. ("Days" and "hours" are examples of other non-SI units that SI accepts.) although not an SI unit — the SI unit of volume is the cubic metre (m3). The spelling used by the International Bureau of Weights and Measures is "litre", a spelling which is shared by almost all English-speaking countries. The spelling "liter" is predominantly used in American English. One litre of liquid water has a mass of almost exactly one kilogram, because the kilogram was originally defined in 1795 as the mass of one cubic decimetre of water at the temperature of melting ice. Subsequent redefinitions of the metre and kilogram mean that this relationship is no longer exact.

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Liver

The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion.

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Liver biopsy

Liver biopsy is the biopsy (removal of a small sample of tissue) from the liver.

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Liver disease

Liver disease (also called hepatic disease) is a type of damage to or disease of the liver.

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Liver failure

Liver failure or hepatic insufficiency is the inability of the liver to perform its normal synthetic and metabolic function as part of normal physiology.

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Liver transplantation

Liver transplantation or hepatic transplantation is the replacement of a diseased liver with the healthy liver from another person (allograft).

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Lund University

Lund University (Lunds universitet) is a public university, consistently ranking among the world's top 100 universities.

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Lung cancer

Lung cancer, also known as lung carcinoma, is a malignant lung tumor characterized by uncontrolled cell growth in tissues of the lung.

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Lung transplantation

Lung transplantation or pulmonary transplantation is a surgical procedure in which a patient's diseased lungs are partially or totally replaced by lungs which come from a donor.

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Lymphoma

Lymphoma is a group of blood cancers that develop from lymphocytes (a type of white blood cell).

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Lysine

Lysine (symbol Lys or K) is an α-amino acid that is used in the biosynthesis of proteins.

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Membranoproliferative glomerulonephritis

Membranoproliferative glomerulonephritis ("MPGN"), also known as mesangiocapillary glomerulonephritis, is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane (GBM) thickening, activating complement and damaging the glomeruli.

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Methionine

Methionine (symbol Met or M) is an essential amino acid in humans.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Neonatal jaundice

Neonatal jaundice is a yellowish discoloration of the white part of the eyes and skin in a newborn baby due to high bilirubin levels.

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Nephelometer

A nephelometer is an instrument for measuring concentration of suspended particulates in a liquid or gas colloid.

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Neutrophil elastase

Neutrophil elastase (leukocyte elastase, ELANE, ELA2, elastase 2, neutrophil, elaszym, serine elastase, subtype human leukocyte elastase (HLE)) is a serine proteinase in the same family as chymotrypsin and has broad substrate specificity.

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Pancreatitis

Pancreatitis is inflammation of the pancreas.

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Panniculitis

Panniculitis is a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin – panniculus adiposus).

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Periodic acid–Schiff stain

Periodic acid–Schiff (PAS) is a staining method used to detect polysaccharides such as glycogen, and mucosubstances such as glycoproteins, glycolipids and mucins in tissues.

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Pneumococcal vaccine

Pneumococcal vaccines are vaccines against the bacteria Streptococcus pneumoniae.

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Pneumothorax

A pneumothorax is an abnormal collection of air in the pleural space between the lung and the chest wall.

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Polymer

A polymer (Greek poly-, "many" + -mer, "part") is a large molecule, or macromolecule, composed of many repeated subunits.

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Polymerization

In polymer chemistry, polymerization is a process of reacting monomer molecules together in a chemical reaction to form polymer chains or three-dimensional networks.

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Primary sclerosing cholangitis

Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder characterized by inflammation and scarring of the bile ducts which normally allow bile to drain from the gallbladder.

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Prolapse

In medicine, prolapse is a condition where organs fall down or slip out of place.

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Proteasome

Proteasomes are protein complexes which degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds.

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Pulmonology

Pulmonology is a medical speciality that deals with diseases involving the respiratory tract.

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Redox

Redox (short for reduction–oxidation reaction) (pronunciation: or) is a chemical reaction in which the oxidation states of atoms are changed.

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Respiratory disease

Respiratory disease is a medical term that encompasses pathological conditions affecting the organs and tissues that make gas exchange possible in higher organisms, and includes conditions of the upper respiratory tract, trachea, bronchi, bronchioles, alveoli, pleura and pleural cavity, and the nerves and muscles of breathing.

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Respiratory tract

In humans, the respiratory tract is the part of the anatomy of the respiratory system involved with the process of respiration.

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Respiratory tract infection

Respiratory tract infection (RTI) refers to any of a number of infectious diseases involving the respiratory tract.

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Rhonchi

Rhonchi are coarse rattling respiratory sounds, usually caused by secretions in bronchial airways.

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Shortness of breath

Shortness of breath, also known as dyspnea, is the feeling that one cannot breathe well enough.

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Sulfoxide

A sulfoxide is a chemical compound containing a sulfinyl (SO) functional group attached to two carbon atoms.

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Sweden

Sweden (Sverige), officially the Kingdom of Sweden (Swedish), is a Scandinavian country in Northern Europe.

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Tobacco smoking

Tobacco smoking is the practice of smoking tobacco and inhaling tobacco smoke (consisting of particle and gaseous phases).

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Turbidimetry

Turbidimetry (the name being derived from turbidity) is the process of measuring the loss of intensity of transmitted light due to the scattering effect of particles suspended in it.

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Wheeze

A wheeze (formally called "sibilant rhonchi" in medical terminology) is a continuous, coarse, whistling sound produced in the respiratory airways during breathing.

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Zygosity

Zygosity is the degree of similarity of the alleles for a trait in an organism.

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Redirects here:

A1 antitrypsin deficiency, A1AD, A1ad, Alpha 1 anti-trypsin deficiency, Alpha 1 antitrypsin deficiency, Alpha-1 antitrypsin deficiency, Alpha-1 proteinase inhibitor, Alpha-1 related emphysema, Alpha-1-Antitrypsin Deficiency, Alpha-1-antitrypsin deficiency, Familial emphysema, Α-1 antitrypsin deficiency, Α-Antitrypsin deficiency, Α1 antitrypsin deficiency, Α1-Antitrypsin deficiency, Α1-antitrypsin deficiency.

References

[1] https://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency

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