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48 relations: Acidosis, Amino acid, Apoptosis, Autophagy, Bethesda, Maryland, Brittany, Carbohydrate, Chromosome 17, Cornea, CTNS (gene), Cysteamine, Cystine, Cystinuria, Cytosol, Diabetes mellitus, Dominance (genetics), Endocytosis, Fanconi syndrome, France, Genetic disorder, Glutathione, Hartnup disease, Inheritance, Kidney, Kidney failure, Kidney transplantation, Lysosomal storage disease, Lysosome, Metabolism, Mitochondrion, National Institutes of Health, Necker-Enfants Malades Hospital, Nephron, Nervous system, Paris, Phosphate, Photophobia, Polyuria, Potassium, Robert Gordon University, Sodium citrate, Thyroid, Tulane University School of Medicine, University of California, San Diego, University of Michigan, University of Sunderland, Urine, X-linked hypophosphatemia.
Acidosis
Acidosis is a process causing increased acidity in the blood and other body tissues (i.e., an increased hydrogen ion concentration).
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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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Apoptosis
Apoptosis (from Ancient Greek ἀπόπτωσις "falling off") is a process of programmed cell death that occurs in multicellular organisms.
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Autophagy
Autophagy (or autophagocytosis) (from the Ancient Greek αὐτόφαγος autóphagos, meaning "self-devouring" and κύτος kýtos, meaning "hollow") is the natural, regulated, destructive mechanism of the cell that disassembles unnecessary or dysfunctional components.
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Bethesda, Maryland
Bethesda is an unincorporated, census-designated place in southern Montgomery County, Maryland, United States, located just northwest of the U.S. capital of Washington, D.C. It takes its name from a local church, the Bethesda Meeting House (1820, rebuilt 1849), which in turn took its name from Jerusalem's Pool of Bethesda.
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Brittany
Brittany (Bretagne; Breizh, pronounced or; Gallo: Bertaèyn, pronounced) is a cultural region in the northwest of France, covering the western part of what was known as Armorica during the period of Roman occupation.
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Carbohydrate
A carbohydrate is a biomolecule consisting of carbon (C), hydrogen (H) and oxygen (O) atoms, usually with a hydrogen–oxygen atom ratio of 2:1 (as in water); in other words, with the empirical formula (where m may be different from n).
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Chromosome 17
Chromosome 17 is one of the 23 pairs of chromosomes in humans.
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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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CTNS (gene)
CTNS may also refer to the Center for Theology and the Natural Sciences. CTNS is the gene that encodes the protein cystinosin in humans.
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Cysteamine
Cysteamine is a medication intended for a number of indications, and approved by the FDA to treat cystinosis.
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Cystine
Cystine is the oxidized dimer form of the amino acid cysteine and has the formula (SCH2CH(NH2)CO2H)2.
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Cystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cysteine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder.
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Cytosol
The cytosol, also known as intracellular fluid (ICF) or cytoplasmic matrix, is the liquid found inside cells.
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Diabetes mellitus
Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.
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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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Endocytosis
Endocytosis is a form of bulk transport in which a cell transports molecules (such as proteins) into the cell (endo- + cytosis) by engulfing them in an energy-using process.
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Fanconi syndrome
Fanconi syndrome or Fanconi's syndrome is a syndrome of inadequate reabsorption in the proximal renal tubules of the kidney.
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France
France, officially the French Republic (République française), is a sovereign state whose territory consists of metropolitan France in Western Europe, as well as several overseas regions and territories.
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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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Glutathione
Glutathione (GSH) is an important antioxidant in plants, animals, fungi, and some bacteria and archaea.
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Hartnup disease
Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).
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Inheritance
Inheritance is the practice of passing on property, titles, debts, rights, and obligations upon the death of an individual.
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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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Kidney failure
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys no longer work.
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Kidney transplantation
Kidney transplantation or renal transplantation is the organ transplant of a kidney into a patient with end-stage renal disease.
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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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Metabolism
Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical transformations within the cells of organisms.
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Mitochondrion
The mitochondrion (plural mitochondria) is a double-membrane-bound organelle found in most eukaryotic organisms.
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National Institutes of Health
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research, founded in the late 1870s.
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Necker-Enfants Malades Hospital
The Hôpital Necker – Enfants Malades (Necker Hospital – Sick Children) is a French teaching hospital in central Paris.
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Nephron
The nephron (from Greek νεφρός – nephros, meaning "kidney") is the microscopic structural and functional unit of the kidney.
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Nervous system
The nervous system is the part of an animal that coordinates its actions by transmitting signals to and from different parts of its body.
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Paris
Paris is the capital and most populous city of France, with an area of and a population of 2,206,488.
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Phosphate
A phosphate is chemical derivative of phosphoric acid.
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Photophobia
Photophobia is a symptom of abnormal intolerance to visual perception of light.
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Polyuria
Polyuria is excessive or an abnormally large production or passage of urine (greater than 2.5 or 3 L over 24 hours in adults).
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Potassium
Potassium is a chemical element with symbol K (from Neo-Latin kalium) and atomic number 19.
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Robert Gordon University
Robert Gordon University, commonly called RGU, is a public university in the city of Aberdeen, Scotland.
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Sodium citrate
Sodium citrate may refer to any of the sodium salts of citrate (though most commonly the third).
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Thyroid
The thyroid gland, or simply the thyroid, is an endocrine gland in the neck, consisting of two lobes connected by an isthmus.
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Tulane University School of Medicine
The Tulane University School of Medicine is located in New Orleans, Louisiana, United States and is a part of Tulane University.
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University of California, San Diego
The University of California, San Diego is a public research university located in the La Jolla neighborhood of San Diego, California, in the United States.
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University of Michigan
The University of Michigan (UM, U-M, U of M, or UMich), often simply referred to as Michigan, is a public research university in Ann Arbor, Michigan.
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University of Sunderland
The University of Sunderland is a university located in Sunderland in the North East of England.
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Urine
Urine is a liquid by-product of metabolism in humans and in many animals.
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X-linked hypophosphatemia
X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets, is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that ingestion of vitamin D is relatively ineffective.
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Cystin transport, protein defect of, Cystine diathesis, Cystine disease, Cystine storage disease, Cystinoses, Cystinotic, Nephropathic cystinosis.
References
[1] https://en.wikipedia.org/wiki/Cystinosis
