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55 relations: Adeno-associated virus, Adenoviridae, Amniocentesis, Aortic valve, Autosome, Blood (journal), Chorionic villus sampling, Chromosome 4, Cord blood, Cornea, Dermatan sulfate, Diarrhea, Dominance (genetics), Enzyme, Enzyme assay, Expert Opinion on Biological Therapy, Fetus, Gargoyle, Gene, Gene therapy, Genetic carrier, Genetic counseling, Genetic disorder, Gertrud Hurler, Glycosaminoglycan, Graft-versus-host disease, Hematopoietic stem cell transplantation, Heparan sulfate, Hepatomegaly, Human leukocyte antigen, Hunter syndrome, Hurler–Scheie syndrome, Iduronidase, Inguinal hernia, Lysosomal storage disease, Lysosome, Macrocephaly, Mucopolysaccharidosis, Mucopolysaccharidosis type I, National Institute of Neurological Disorders and Stroke, Organ (anatomy), Plasmid, Prenatal testing, Retinopathy, Retrovirus, Scaphocephaly, Scheie syndrome, Skull bossing, Splenomegaly, Survival rate, ..., Symptom, The New England Journal of Medicine, Umbilical hernia, Urine, World War I. Expand index (5 more) »
Adeno-associated virus
Adeno-associated virus (AAV) is a small virus which infects humans and some other primate species.
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Adenoviridae
Adenoviruses (members of the family Adenoviridae) are medium-sized (90–100 nm), nonenveloped (without an outer lipid bilayer) viruses with an icosahedral nucleocapsid containing a double stranded DNA genome.
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Amniocentesis
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.
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Aortic valve
The aortic valve is a valve in the human heart between the left ventricle and the aorta.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Blood (journal)
Blood is a peer-reviewed medical journal published by the American Society of Hematology.
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Chorionic villus sampling
Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.
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Chromosome 4
Chromosome 4 is one of the 23 pairs of chromosomes in humans.
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Cord blood
Umbilical cord blood is blood that remains in the placenta and in the attached umbilical cord after childbirth.
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Cornea
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber.
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Dermatan sulfate
Dermatan sulfate is a glycosaminoglycan (formerly called a mucopolysaccharide) found mostly in skin, but also in blood vessels, heart valves, tendons, and lungs.
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Diarrhea
Diarrhea, also spelled diarrhoea, is the condition of having at least three loose or liquid bowel movements each day.
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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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Enzyme
Enzymes are macromolecular biological catalysts.
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Enzyme assay
Enzyme assays are laboratory methods for measuring enzymatic activity.
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Expert Opinion on Biological Therapy
Expert Opinion on Biological Therapy is a monthly peer-reviewed medical journal covering research on all aspects of biological therapy, including gene therapy and gene transfer technologies, therapeutic peptides and proteins, vaccines and antibodies, and cell- and tissue-based therapies.
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Fetus
A fetus is a stage in the prenatal development of viviparous organisms.
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Gargoyle
In architecture, a gargoyle is a carved or formed grotesque with a spout designed to convey water from a roof and away from the side of a building, thereby preventing rainwater from running down masonry walls and eroding the mortar between.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Gene therapy
In the medicine field, gene therapy (also called human gene transfer) is the therapeutic delivery of nucleic acid into a patient's cells as a drug to treat disease.
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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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Gertrud Hurler
Gertrud Hurler, née Zach (1 September 1889 – 1965), was a German pediatrician who wrote up a disease that came to be known as Hurler syndrome and a lesser version which is known as Hurler–Scheie syndrome.
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Glycosaminoglycan
Glycosaminoglycans (GAGs) or mucopolysaccharides are long unbranched polysaccharides consisting of a repeating disaccharide unit.
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Graft-versus-host disease
Graft-versus-host disease (GvHD) is a medical complication following the receipt of transplanted tissue from a genetically different person.
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Hematopoietic stem cell transplantation
Hematopoietic stem cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood.
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Heparan sulfate
Heparan sulfate (HS) is a linear polysaccharide found in all animal tissues.
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Hepatomegaly
Hepatomegaly is the condition of having an enlarged liver.
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Human leukocyte antigen
The human leukocyte antigen (HLA) system or complex is a gene complex encoding the major histocompatibility complex (MHC) proteins in humans.
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Hunter syndrome
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a lysosomal storage disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
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Hurler–Scheie syndrome
Hurler–Scheie syndrome (also known as "mucopolysaccharidosis type I H-S") is a cutaneous condition, also characterized by mild mental retardation and corneal clouding.
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Iduronidase
Iduronidase (L-iduronidase, alpha-L-iduronidase, laronidase), sold as Aldurazyme, is an enzyme with the systematic name glycosaminoglycan alpha-L-iduronohydrolase.
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Inguinal hernia
An inguinal hernia is a protrusion of abdominal-cavity contents through the inguinal canal.
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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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Macrocephaly
Macrocephaly is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.
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Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans.
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Mucopolysaccharidosis type I
Mucopolysaccharidosis type I, or MPS I, is a spectrum of diseases in the mucopolysaccharidosis family.
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National Institute of Neurological Disorders and Stroke
The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH).
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Organ (anatomy)
Organs are collections of tissues with similar functions.
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Plasmid
A plasmid is a small DNA molecule within a cell that is physically separated from a chromosomal DNA and can replicate independently.
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Prenatal testing
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.
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Retinopathy
Retinopathy is any damage to the retina of the eyes, which may cause vision impairment.
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Retrovirus
A retrovirus is a single-stranded positive-sense RNA virus with a DNA intermediate and, as an obligate parasite, targets a host cell.
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Scaphocephaly
Scaphocephaly is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture.
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Scheie syndrome
Scheie syndrome (also known as "MPS I-S") is a disease caused by a deficiency in the enzyme iduronidase, leading to the buildup of glycosaminoglycans (GAGs) in the body.
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Skull bossing
Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing").
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Splenomegaly
Splenomegaly is an enlargement of the spleen.
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Survival rate
Survival rate is a part of survival analysis.
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Symptom
A symptom (from Greek σύμπτωμα, "accident, misfortune, that which befalls", from συμπίπτω, "I befall", from συν- "together, with" and πίπτω, "I fall") is a departure from normal function or feeling which is noticed by a patient, reflecting the presence of an unusual state, or of a disease.
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The New England Journal of Medicine
The New England Journal of Medicine (NEJM) is a weekly medical journal published by the Massachusetts Medical Society.
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Umbilical hernia
An umbilical hernia is a health condition where the abdominal wall behind the navel is damaged.
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Urine
Urine is a liquid by-product of metabolism in humans and in many animals.
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World War I
World War I (often abbreviated as WWI or WW1), also known as the First World War, the Great War, or the War to End All Wars, was a global war originating in Europe that lasted from 28 July 1914 to 11 November 1918.
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Redirects here:
Gargoylism, Hunter-Hurler disease, Hunter-Hurler syndrome, Hurler Syndrome, Hurler disease, Hurler syndrome (MPS I), Hurler's Syndrome, Hurler's disease, Hurler's syndrome, Lipochondrodystrophy, Mucopolysaccharidosis I, Mucopolysaccharidosis I H (Hurler), Mucopolysaccharidosis Ih, Mucopolysaccharidosis i, Mucopolysaccharidosis, type I, Pfaundler syndrome.
References
[1] https://en.wikipedia.org/wiki/Hurler_syndrome
