46 relations: ATP7A, Biopsy, Blood vessel, Bone, Brain, Calcium in biology, Child development stages, Chromosome, Copper, Copper deficiency, Copper in health, Endocrinology, Enzyme, Epileptic seizure, Failure to thrive, Folliculitis decalvans, Gene, Golgi apparatus, Grey matter, Hair, Homovanillic acid, Hypothermia, Hypotonia, John Menkes, Kidney, List of cutaneous conditions, List of radiographic findings associated with cutaneous conditions, Lysyl oxidase, Metaphysis, Muscle tone, Mutation, Nervous system, Neurodegeneration, Occipital bone, Occipital horn syndrome, Osteoporosis, Preterm birth, Sex chromosome, Skin, Small intestine, Specific developmental disorder, The Spill Canvas, Transmembrane protein, Vanillylmandelic acid, X-linked recessive inheritance, X-ray.
ATP7A
ATP7A, also known as Menkes' protein (MNK), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu(I) across cell membranes.
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Biopsy
A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist involving extraction of sample cells or tissues for examination to determine the presence or extent of a disease.
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Blood vessel
The blood vessels are the part of the circulatory system, and microcirculation, that transports blood throughout the human body.
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Bone
A bone is a rigid organ that constitutes part of the vertebrate skeleton.
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Brain
The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.
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Calcium in biology
Calcium ions (Ca2+) play a vital role in the physiology and biochemistry of organisms and the cell.
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Child development stages
Child development stages are the theoretical milestones of child development, some of which are asserted in nativist theories.
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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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Copper
Copper is a chemical element with symbol Cu (from cuprum) and atomic number 29.
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Copper deficiency
Copper deficiency is a very rare hematological and neurological disorder.
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Copper in health
Copper is an essential trace element that is vital to the health of all living things (humans, plants, animals, and microorganisms).
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Endocrinology
Endocrinology (from endocrine + -ology) is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions known as hormones.
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Enzyme
Enzymes are macromolecular biological catalysts.
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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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Failure to thrive
Failure to thrive (FTT), more recently known as faltering weight or weight faltering, is a term used in pediatric medicine, as well as veterinary medicine (where it is also referred to as ill-thrift), to indicate insufficient weight gain or inappropriate weight loss.
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Folliculitis decalvans
Folliculitis decalvans is an inflammation of the hair follicle that leads to bogginess or induration of involved parts of the scalp along with pustules, erosions, crusts, ulcers, and scale.
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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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Golgi apparatus
The Golgi apparatus, also known as the Golgi complex, Golgi body, or simply the Golgi, is an organelle found in most eukaryotic cells.
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Grey matter
Grey matter (or gray matter) is a major component of the central nervous system, consisting of neuronal cell bodies, neuropil (dendrites and myelinated as well as unmyelinated axons), glial cells (astrocytes and oligodendrocytes), synapses, and capillaries.
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Hair
Hair is a protein filament that grows from follicles found in the dermis.
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Homovanillic acid
Homovanillic acid (HVA) is a major catecholamine metabolite that is produced by a consecutive action of monoamine oxidase and catechol-O-methyltransferase on dopamine.
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Hypothermia
Hypothermia is reduced body temperature that happens when a body dissipates more heat than it absorbs.
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Hypotonia
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
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John Menkes
John Hans Menkes (December 20, 1928 – November 22, 2008) was a pediatric neurologist and author of fictional novels and plays.
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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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List of cutaneous conditions
Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands.
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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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Lysyl oxidase
Lysyl oxidase (LOX), also known as protein-lysine 6-oxidase, is a protein that, in humans, is encoded by the LOX gene.
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Metaphysis
The metaphysis is the narrow portion of a long bone between the epiphysis and the diaphysis.
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Muscle tone
In physiology, medicine, and anatomy, muscle tone (residual muscle tension or tonus) is the continuous and passive partial contraction of the muscles, or the muscle's resistance to passive stretch during resting state.
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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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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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Neurodegeneration
Neurodegeneration is the progressive loss of structure or function of neurons, including death of neurons.
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Occipital bone
The occipital bone is a cranial dermal bone, and is the main bone of the occiput (back and lower part of the skull).
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Occipital horn syndrome
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive mitochondrial and connective tissue disorder.
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Osteoporosis
Osteoporosis is a disease where increased bone weakness increases the risk of a broken bone.
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Preterm birth
Preterm birth, also known as premature birth, is the birth of a baby at fewer than 37 weeks gestational age.
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Sex chromosome
An allosome (also referred to as a sex chromosome, heterotypical chromosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior.
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Skin
Skin is the soft outer tissue covering vertebrates.
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Small intestine
The small intestine or small bowel is the part of the gastrointestinal tract between the stomach and the large intestine, and is where most of the end absorption of food takes place.
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Specific developmental disorder
Specific developmental disorders (SDD) are disorders in which development is delayed in one specific area or areas,Ahuja Vyas: Textbook of Postgraduate Psychiatry (2 Vols.), 2nd ed.
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The Spill Canvas
The Spill Canvas is an American alternative rock band from Sioux Falls, South Dakota.
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Transmembrane protein
A transmembrane protein (TP) is a type of integral membrane protein that spans the entirety of the biological membrane to which it is permanently attached.
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Vanillylmandelic acid
Vanillylmandelic acid (VMA) is a chemical intermediate in the synthesis of artificial vanilla flavorings and is an end-stage metabolite of the catecholamines, epinephrine, and norepinephrine.
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X-linked recessive inheritance
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
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X-ray
X-rays make up X-radiation, a form of electromagnetic radiation.
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Redirects here:
Copper transport disease, Kinky hair disease, Kinky hair syndrome, Long bone spurs, Menke's disease, Menke's kinky hair syndrome, Menke's syndrome, Menkes kinky hair syndrome, Menkes syndrome, Menkes' disease, Menkes' syndrome, Metaphyseal widening.
References
[1] https://en.wikipedia.org/wiki/Menkes_disease