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Gaucher's disease

Index Gaucher's disease

Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. [1]

103 relations: Acid phosphatase, Agranulocyte, Alglucerase, Alkaline phosphatase, Allele, Amino acid, Anemia, Angiotensin-converting enzyme, Antibody, Apoptosis, Ashkenazi Jews, Bleeding, Blood plasma, Bone disease, Bone marrow, Bruise, Cathepsin S, CCL18, Cell membrane, Chicago Tribune, Chromosome, Chromosome 1, Cirrhosis, Dominance (genetics), Eliglustat, Enzyme, Enzyme replacement therapy, Epileptic seizure, Eponym, Erlenmeyer flask, Fabry disease, Fatigue, Femur, Genetic carrier, Genetic counseling, Genetic disorder, Genetic testing, Genotype, Glucocerebrosidase, Glucocerebroside, H&E stain, Hepatomegaly, Hepatosplenomegaly, Housekeeping gene, Human brain, Imiglucerase, Incidence (epidemiology), Infection, Inflammation, Intellectual disability, ..., Intravenous therapy, Kidney, Krabbe disease, Leukopenia, Lipid, List of radiographic findings associated with cutaneous conditions, Liver, Lung, Lymph node, Lysosomal storage disease, Lysosome, Macrophage, Medical genetics of Jews, Metachromatic leukodystrophy, Microscopy, Miglustat, Multiple myeloma, Myelin, Myoclonus, Neurology, Neutropenia, Niemann–Pick disease, Norrbotten, Orphan drug, Osteoporosis, Pancytopenia, Parkinson's disease, Phenotype, Philippe Gaucher, Pigment, Placentalia, Platelet, Recombinant DNA, Red blood cell, Reuters, Sclera, Spasticity, Sphingolipid, Sphingolipidoses, Spleen, Splenomegaly, Substrate reduction therapy, Sweden, Taliglucerase alfa, Tay–Sachs disease, The International League of Dermatological Societies, Thrombocytopenia, Tissue (biology), Tumor necrosis factor alpha, Unified atomic mass unit, Velaglucerase alfa, White blood cell, Zygosity. Expand index (53 more) »

Acid phosphatase

Acid phosphatase (acid phosphomonoesterase, phosphomonoesterase, glycerophosphatase, acid monophosphatase, acid phosphohydrolase, acid phosphomonoester hydrolase, uteroferrin, acid nucleoside diphosphate phosphatase, orthophosphoric-monoester phosphohydrolase (acid optimum)) is a phosphatase, a type of enzyme, used to free attached phosphoryl groups from other molecules during digestion.

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Agranulocyte

Agranulocytes, also known as mononuclear leukocytes, are white blood cells with a one-lobed nucleus.

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Alglucerase

Alglucerase was a biopharmaceutical drug for the treatment of Gaucher's disease.

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Alkaline phosphatase

Alkaline phosphatase (ALP, ALKP, ALPase, Alk Phos) or basic phosphatase is a homodimeric protein enzyme of 86 kilodaltons.

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Allele

An allele is a variant form of a given gene.

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Amino acid

Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.

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Anemia

Anemia is a decrease in the total amount of red blood cells (RBCs) or hemoglobin in the blood, or a lowered ability of the blood to carry oxygen.

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Angiotensin-converting enzyme

Angiotensin-converting enzyme, or ACE, is a central component of the renin–angiotensin system (RAS), which controls blood pressure by regulating the volume of fluids in the body.

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Antibody

An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein produced mainly by plasma cells that is used by the immune system to neutralize pathogens such as pathogenic bacteria and viruses.

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Apoptosis

Apoptosis (from Ancient Greek ἀπόπτωσις "falling off") is a process of programmed cell death that occurs in multicellular organisms.

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Ashkenazi Jews

Ashkenazi Jews, also known as Ashkenazic Jews or simply Ashkenazim (אַשְׁכְּנַזִּים, Ashkenazi Hebrew pronunciation:, singular:, Modern Hebrew:; also), are a Jewish diaspora population who coalesced in the Holy Roman Empire around the end of the first millennium.

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Bleeding

Bleeding, also known as hemorrhaging or haemorrhaging, is blood escaping from the circulatory system.

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Blood plasma

Blood plasma is a yellowish coloured liquid component of blood that normally holds the blood cells in whole blood in suspension; this makes plasma the extracellular matrix of blood cells.

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Bone disease

Bone disease refers to the medical conditions which affect the bone.

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Bone marrow

Bone marrow is a semi-solid tissue which may be found within the spongy or cancellous portions of bones.

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Bruise

A contusion, commonly known as a bruise, is a type of hematoma of tissue in which capillaries and sometimes venules are damaged by trauma, allowing blood to seep, hemorrhage, or extravasate into the surrounding interstitial tissues.

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Cathepsin S

Cathepsin S is a protein that in humans is encoded by the CTSS gene.

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CCL18

Chemokine (C-C motif) ligand 18 (CCL18) is a small cytokine belonging to the CC chemokine family.

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Cell membrane

The cell membrane (also known as the plasma membrane or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates the interior of all cells from the outside environment (the extracellular space).

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Chicago Tribune

The Chicago Tribune is a daily newspaper based in Chicago, Illinois, United States, owned by Tronc, Inc., formerly Tribune Publishing.

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Chromosome

A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.

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Chromosome 1

Chromosome 1 is the designation for the largest human chromosome.

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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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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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Eliglustat

Eliglustat (INN, USAN; trade name Cerdelga) is a treatment for Gaucher's disease developed by Genzyme Corp that was approved by the FDA August 2014.

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Enzyme

Enzymes are macromolecular biological catalysts.

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Enzyme replacement therapy

Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body.

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Epileptic seizure

An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.

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Eponym

An eponym is a person, place, or thing after whom or after which something is named, or believed to be named.

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Erlenmeyer flask

An Erlenmeyer flask, also known as a conical flask (BrE) or titration flask, is a type of laboratory flask which features a flat bottom, a conical body, and a cylindrical neck.

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Fabry disease

Fabry disease is a rare genetic disease.

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Fatigue

Fatigue is a subjective feeling of tiredness that has a gradual onset.

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Femur

The femur (pl. femurs or femora) or thigh bone, is the most proximal (closest to the hip joint) bone of the leg in tetrapod vertebrates capable of walking or jumping, such as most land mammals, birds, many reptiles including lizards, and amphibians such as frogs.

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Genetic carrier

A hereditary carrier (or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease.

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Genetic counseling

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.

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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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Glucocerebrosidase

β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells).

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Glucocerebroside

Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose.

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H&E stain

Hematoxylin and eosin stain or haematoxylin and eosin stain (H&E stain or HE stain) is one of the principal stains in histology.

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Hepatomegaly

Hepatomegaly is the condition of having an enlarged liver.

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Hepatosplenomegaly

Hepatosplenomegaly (commonly abbreviated HSM) is the simultaneous enlargement of both the liver (hepatomegaly) and the spleen (splenomegaly).

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Housekeeping gene

In molecular biology, housekeeping genes are typically constitutive genes that are required for the maintenance of basic cellular function, and are expressed in all cells of an organism under normal and patho-physiological conditions.

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Human brain

The human brain is the central organ of the human nervous system, and with the spinal cord makes up the central nervous system.

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Imiglucerase

Imiglucerase is a medication used in the treatment of Gaucher's disease.

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Incidence (epidemiology)

Incidence in epidemiology is a measure of the probability of occurrence of a given medical condition in a population within a specified period of time.

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Infection

Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.

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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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Intellectual disability

Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.

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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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Kidney

The kidneys are two bean-shaped organs present in left and right sides of the body in vertebrates.

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Krabbe disease

Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system.

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Leukopenia

Leukopenia is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.

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Lipid

In biology and biochemistry, a lipid is a biomolecule that is soluble in nonpolar solvents.

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List of radiographic findings associated with cutaneous conditions

Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person.

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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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Lung

The lungs are the primary organs of the respiratory system in humans and many other animals including a few fish and some snails.

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Lymph node

A lymph node or lymph gland is an ovoid or kidney-shaped organ of the lymphatic system, and of the adaptive immune system, that is widely present throughout the body.

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Lysosomal storage disease

Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function.

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Lysosome

A lysosome is a membrane-bound organelle found in nearly all animal cells.

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Macrophage

Macrophages (big eaters, from Greek μακρός (makrós).

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Medical genetics of Jews

The medical genetics of Jews is the study, screening, and treatment of genetic disorders more common in particular Jewish populations than in the population as a whole.

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Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD, also called arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.

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Microscopy

Microscopy is the technical field of using microscopes to view objects and areas of objects that cannot be seen with the naked eye (objects that are not within the resolution range of the normal eye).

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Miglustat

Miglustat (OGT 918, N-butyl-deoxynojirimycin) is a drug developed by Oxford GlycoSciences and marketed by Actelion and is used primarily to treat type I Gaucher disease (GD1).

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Multiple myeloma

Multiple myeloma, also known as plasma cell myeloma, is a cancer of plasma cells, a type of white blood cell normally responsible for producing antibodies.

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Myelin

Myelin is a lipid-rich substance that surrounds the axon of some nerve cells, forming an electrically insulating layer.

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Myoclonus

Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.

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Neurology

Neurology (from νεῦρον (neûron), "string, nerve" and the suffix -logia, "study of") is a branch of medicine dealing with disorders of the nervous system.

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Neutropenia

Neutropenia or neutropaenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood.

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Niemann–Pick disease

Niemann–Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.

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Norrbotten

Norrbotten, known in English as North Bothnia, is a Swedish province (landskap) in northernmost Sweden.

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Orphan drug

An orphan drug is a pharmaceutical agent that has been developed specifically to treat a rare medical condition, the condition itself being referred to as an orphan disease.

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Osteoporosis

Osteoporosis is a disease where increased bone weakness increases the risk of a broken bone.

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Pancytopenia

Pancytopenia is a medical condition in which there is a reduction in the number of red and white blood cells, as well as platelets.

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Parkinson's disease

Parkinson's disease (PD) is a long-term degenerative disorder of the central nervous system that mainly affects the motor system.

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Phenotype

A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).

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Philippe Gaucher

Philippe Charles Ernest Gaucher (July 26, 1854 – January 25, 1918) was a French dermatologist born in the department of Nièvre.

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Pigment

A pigment is a material that changes the color of reflected or transmitted light as the result of wavelength-selective absorption.

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Placentalia

Placentalia ("Placentals") is one of the three extant subdivisions of the class of animals Mammalia; the other two are Monotremata and Marsupialia.

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Platelet

Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping, thereby initiating a blood clot.

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Recombinant DNA

Recombinant DNA (rDNA) molecules are DNA molecules formed by laboratory methods of genetic recombination (such as molecular cloning) to bring together genetic material from multiple sources, creating sequences that would not otherwise be found in the genome.

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Red blood cell

Red blood cells-- also known as RBCs, red cells, red blood corpuscles, haematids, erythroid cells or erythrocytes (from Greek erythros for "red" and kytos for "hollow vessel", with -cyte translated as "cell" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O2) to the body tissues—via blood flow through the circulatory system.

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Reuters

Reuters is an international news agency headquartered in London, United Kingdom.

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Sclera

The sclera, also known as the white of the eye, is the opaque, fibrous, protective, outer layer of the human eye containing mainly collagen and some elastic fiber.

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Spasticity

Spasticity is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia.

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Sphingolipid

Sphingolipids are a class of lipids containing a backbone of sphingoid bases, a set of aliphatic amino alcohols that includes sphingosine.

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Sphingolipidoses

Sphingolipidoses (singular "sphingolipidosis") are a class of lipid storage disorders relating to sphingolipid metabolism.

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Spleen

The spleen is an organ found in virtually all vertebrates.

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Splenomegaly

Splenomegaly is an enlargement of the spleen.

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Substrate reduction therapy

Substrate reduction therapy offers an approach to treatment of certain metabolic disorders, especially glycogen storage diseases and lysosomal storage disorders.

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Sweden

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

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Taliglucerase alfa

Taliglucerase alfa, commercially known as Elelyso, is a biopharmaceutical drug developed by Protalix and Pfizer.

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Tay–Sachs disease

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.

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The International League of Dermatological Societies

The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization.

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Thrombocytopenia

Thrombocytopenia is a condition characterized by abnormally low levels of thrombocytes, also known as platelets, in the blood.

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Tissue (biology)

In biology, tissue is a cellular organizational level between cells and a complete organ.

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Tumor necrosis factor alpha

Tumor necrosis factor (TNF, tumor necrosis factor alpha, TNFα, cachexin, or cachectin) is a cell signaling protein (cytokine) involved in systemic inflammation and is one of the cytokines that make up the acute phase reaction.

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Unified atomic mass unit

The unified atomic mass unit or dalton (symbol: u, or Da) is a standard unit of mass that quantifies mass on an atomic or molecular scale (atomic mass).

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Velaglucerase alfa

Velaglucerase alfa (trade name VPRIV), manufactured by Shire plc is a hydrolytic lysosomal glucocerebroside-specific enzyme, which is a recombinant form of glucocerebrosidase indicated as a long-term enzyme replacement therapy for those suffering of Gaucher disease Type 1.

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White blood cell

White blood cells (WBCs), also called leukocytes or leucocytes, are the cells of the immune system that are involved in protecting the body against both infectious disease and foreign invaders.

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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:

Acid beta-glucosidase deficiency, Acute cerebral Gaucher's disease, Anemia, splenic, familial, Cerebroside Lipidosis syndrome, Erlenmeyer flask deformity of the femur, Gaucher Disease, Gaucher disease, Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Gaucher syndrome, Gaucher's, Gaucher's Disease, Gauchers Disease, Gauchers disease, Gaucher’s disease, Pseudo-Gaucher disease.

References

[1] https://en.wikipedia.org/wiki/Gaucher's_disease

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