Salvatore DiMauro
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Salvatore DiMauro
Salvatore DiMauro, M.D., was born in Verona, Italy, November 14, 1939, graduated in medicine from the University of Padua in 1963 and completed his residency in neurology in 1966. He then completed a postdoctoral fellowship in the Department of Neurology at the University of Pennsylvania. His research focuses on genetic errors of energy metabolism and he defines disease entities using both biochemical and molecular approaches. As an "enzyme defect hunter", DiMauro has documented the molecular basis of many enzyme deficiencies, including carnitine palmitoyltransferase deficiency, the first error of fatty acid oxidation to be recognized in humans. With colleagues at the University of Pennsylvania in the 1970s, DiMauro studied the second patient ever with Luft's disease, the prototypical (though also the rarest) mitochondrial disease. He is a Professor of Neurology at Columbia University Columbia University (also known as Columbia, and officially as Columbia University in the C ...
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Verona
Verona ( , ; vec, Verona or ) is a city on the Adige River in Veneto, Northern Italy, Italy, with 258,031 inhabitants. It is one of the seven provincial capitals of the region. It is the largest city Comune, municipality in the region and the second largest in northeastern Italy. The metropolitan area of Verona covers an area of and has a population of 714,310 inhabitants. It is one of the main tourist destinations in northern Italy because of its artistic heritage and several annual fairs and shows as well as the Opera, opera season in the Verona Arena, Arena, an ancient Ancient Rome, Roman Amphitheatre, amphitheater. Between the 13th and 14th century the city was ruled by the Scaliger, della Scala Family. Under the rule of the family, in particular of Cangrande I della Scala, the city experienced great prosperity, becoming rich and powerful and being surrounded by new walls. The Della Scala era is survived in numerous monuments around Verona. Two of William Shakespeare's ...
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Carnitine Palmitoyltransferase Deficiency
Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids(LCFA) into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down. Symptoms and signs Signs and symptoms of this disorder include low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. Genetics Mutations in the ''CPT1A'' gene cause carnitine palmitoyltransferase I ...
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Physicians From Verona
A physician (American English), medical practitioner (Commonwealth English), medical doctor, or simply doctor, is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through the study, diagnosis, prognosis and treatment of disease, injury, and other physical and mental impairments. Physicians may focus their practice on certain disease categories, types of patients, and methods of treatment—known as specialities—or they may assume responsibility for the provision of continuing and comprehensive medical care to individuals, families, and communities—known as general practice. Medical practice properly requires both a detailed knowledge of the academic disciplines, such as anatomy and physiology, underlying diseases and their treatment—the ''science'' of medicine—and also a decent competence in its applied practice—the art or ''craft'' of medicine. Both the role of the physician and the meaning of t ...
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Italian Emigrants To The United States
Italian(s) may refer to: * Anything of, from, or related to the people of Italy over the centuries ** Italians, an ethnic group or simply a citizen of the Italian Republic or Italian Kingdom ** Italian language, a Romance language *** Regional Italian, regional variants of the Italian language ** Languages of Italy, languages and dialects spoken in Italy ** Italian culture, cultural features of Italy ** Italian cuisine, traditional foods ** Folklore of Italy, the folklore and urban legends of Italy ** Mythology of Italy, traditional religion and beliefs Other uses * Italian dressing, a vinaigrette-type salad dressing or marinade * Italian or Italian-A, alternative names for the Ping-Pong virus, an extinct computer virus See also * * * Italia (other) * Italic (other) * Italo (other) * The Italian (other) * Italian people (other) Italian people may refer to: * in terms of ethnicity: all ethnic Italians, in and outside of Italy * ...
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Columbia University Faculty
Columbia may refer to: * Columbia (personification), the historical female national personification of the United States, and a poetic name for America Places North America Natural features * Columbia Plateau, a geologic and geographic region in the U.S. Pacific Northwest * Columbia River, in Canada and the United States ** Columbia Bar, a sandbar in the estuary of the Columbia River ** Columbia Country, the region of British Columbia encompassing the northern portion of that river's upper reaches ***Columbia Valley, a region within the Columbia Country ** Columbia Lake, a lake at the head of the Columbia River *** Columbia Wetlands, a protected area near Columbia Lake ** Columbia Slough, along the Columbia watercourse near Portland, Oregon * Glacial Lake Columbia, a proglacial lake in Washington state * Columbia Icefield, in the Canadian Rockies * Columbia Island (District of Columbia), in the Potomac River * Columbia Island (New York), in Long Island Sound Populated places * ...
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Italian Neuroscientists
Italian(s) may refer to: * Anything of, from, or related to the people of Italy over the centuries ** Italians, an ethnic group or simply a citizen of the Italian Republic or Italian Kingdom ** Italian language, a Romance language *** Regional Italian, regional variants of the Italian language ** Languages of Italy, languages and dialects spoken in Italy ** Italian culture, cultural features of Italy ** Italian cuisine, traditional foods ** Folklore of Italy, the folklore and urban legends of Italy ** Mythology of Italy, traditional religion and beliefs Other uses * Italian dressing, a vinaigrette-type salad dressing or marinade * Italian or Italian-A, alternative names for the Ping-Pong virus, an extinct computer virus See also * * * Italia (other) * Italic (other) * Italo (other) * The Italian (other) * Italian people (other) Italian people may refer to: * in terms of ethnicity: all ethnic Italians, in and outside of Italy * in ...
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Italian Neurologists
Italian(s) may refer to: * Anything of, from, or related to the people of Italy over the centuries ** Italians, an ethnic group or simply a citizen of the Italian Republic or Italian Kingdom ** Italian language, a Romance language *** Regional Italian, regional variants of the Italian language ** Languages of Italy, languages and dialects spoken in Italy ** Italian culture, cultural features of Italy ** Italian cuisine, traditional foods ** Folklore of Italy, the folklore and urban legends of Italy ** Mythology of Italy, traditional religion and beliefs Other uses * Italian dressing, a vinaigrette-type salad dressing or marinade * Italian or Italian-A, alternative names for the Ping-Pong virus, an extinct computer virus See also * * * Italia (other) * Italic (other) * Italo (other) * The Italian (other) * Italian people (other) Italian people may refer to: * in terms of ethnicity: all ethnic Italians, in and outside of Italy * in t ...
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Living People
Related categories * :Year of birth missing (living people) / :Year of birth unknown * :Date of birth missing (living people) / :Date of birth unknown * :Place of birth missing (living people) / :Place of birth unknown * :Year of death missing / :Year of death unknown * :Date of death missing / :Date of death unknown * :Place of death missing / :Place of death unknown * :Missing middle or first names See also * :Dead people * :Template:L, which generates this category or death years, and birth year and sort keys. : {{DEFAULTSORT:Living people 21st-century people People by status ...
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Columbia University
Columbia University (also known as Columbia, and officially as Columbia University in the City of New York) is a private research university in New York City. Established in 1754 as King's College on the grounds of Trinity Church in Manhattan, Columbia is the oldest institution of higher education in New York and the fifth-oldest institution of higher learning in the United States. It is one of nine colonial colleges founded prior to the Declaration of Independence. It is a member of the Ivy League. Columbia is ranked among the top universities in the world. Columbia was established by royal charter under George II of Great Britain. It was renamed Columbia College in 1784 following the American Revolution, and in 1787 was placed under a private board of trustees headed by former students Alexander Hamilton and John Jay. In 1896, the campus was moved to its current location in Morningside Heights and renamed Columbia University. Columbia scientists and scholars have ...
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Professor
Professor (commonly abbreviated as Prof.) is an Academy, academic rank at university, universities and other post-secondary education and research institutions in most countries. Literally, ''professor'' derives from Latin as a "person who professes". Professors are usually experts in their field and teachers of the highest rank. In most systems of List of academic ranks, academic ranks, "professor" as an unqualified title refers only to the most senior academic position, sometimes informally known as "full professor". In some countries and institutions, the word "professor" is also used in titles of lower ranks such as associate professor and assistant professor; this is particularly the case in the United States, where the unqualified word is also used colloquially to refer to associate and assistant professors as well. This usage would be considered incorrect among other academic communities. However, the otherwise unqualified title "Professor" designated with a capital let ...
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Mitochondrial Disease
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Examples of mitochondrial diseases include: * Mitochondrial myopathy * Diabetes mellitus and deafness (DAD) ** this combination at an early age can be due to mitochondrial disease ** Diabetes mellitus and deafness can be found together for other reasons * Leber's hereditary optic neuropathy (LHON) ** visual loss beginning in young adulthood ** eye disorder characterized by progressive loss of central v ...
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Humans
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically ...
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