SMPD1-associated Niemann–Pick disease refers to two different types of Niemann–Pick disease, type A (NPA) and type B (NPB), which are associated with the SMPD1 gene.
There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form.
Descriptions of type E[1] and type F[2] have been published, but they are not well characterized, and are currently classified under type B.[3]
Mutations in the SMPD1 gene cause Niemann–Pick types A and B. This gene carries instructions for cells to produce a lysosomal enzyme called acid sphingomyelinase. Insufficient activity of the enzyme acid sphingomyelinase causes the buildup of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. This enzyme is found in special compartments within cells called lysosomes (compartments that digest and recycle materials in the cell), and is required to metabolize the lipid sphingomyelin. If sphingomyelinase is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems.[citation needed]
Niemann–Pick type A, the most common type, occurs in infants and is characterized by jaundice, an enlarged liver, failure to thrive, progressive deterioration of the nervous system and profound brain damage. Children affected by Niemann Pick Type A rarely live beyond 18 months. Niemann–Pick Type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in other ethnicities. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is 1 in 250,000 people.[citation needed]
Niemann–Pick type B involves an enlarged liver and spleen (hepatosplenomegaly), growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of blood cells involved in clotting (platelets). The brain is not affected in type B and the disease often presents in the pre-teen years.[citation needed]
Banco Central de Costa Rica Sede del banco central de Costa Rica LogoBanco central de Costa RicaSede Avenida Central, Calle 4, Merced, 10102, San José, San José.Fundación 27 de enero de 1950 (73 años)Presidente Róger Madrigal López[1]Divisa Colón costarricenseCRC (ISO 4217)Reservas 6210,2 millones de US$[2]Tipo de interés 6.50% (Julio de 2023)[3]Sitio web http://www.bccr.fi.cr/[editar datos en Wikidata] El Banco Central de…
SS JaguarJaguar1½—2½—3½ LitreJaguar 2½ litre sedan sport 1947InformasiProdusen SS Cars Jaguar Cars Masa produksi1935–1949PerakitanCoventry, EnglandBodi & rangkaKelasMobil Eksekutif (E)Tata letakFR layoutKronologiPendahuluSS Cars Ltd SS1PenerusJaguar Mark V Jaguar Mark IV (diucapkan mark four ) adalah jajaran mobil yang dibuat oleh Jaguar Cars dari tahun 1945 hingga 1949. Mobil ini dipasarkan sebagai Jaguar 1½ litre, Jaguar 2½ litre dan Jaguar 3½ litre dengan nama Mark IV kemudia…
Democratic member of the U.S. House of Representatives from Pennsylvania From Volume 13 (1921) of Encyclopedia of Pennsylvania Biography John Reilly (February 22, 1836 – April 19, 1904) was a Democratic member of the U.S. House of Representatives from Pennsylvania. Biography John Reilly was born in Abnerville, Indiana County, Pennsylvania.[1] He received home instruction and attended the public schools. He entered the service of the Pennsylvania Railroad, on April 10, 1854. He was appo…
Sint-Joriskerk, zuidgevel De Sint-Joriskerk (Lets: Svētā Jura baznīca) was oorspronkelijk een rooms-katholieke kerk in Riga, de hoofdstad van Letland. Het is het oudste nog bestaande stenen gebouw in die stad en is in de loop van de eeuwen voor verschillende doeleinden gebruikt. Na een grote restauratie biedt het nu onderdak aan het Letse museum voor Toegepaste kunst en Design. Stichting De stichter van Riga, bisschop Albert van Buxhoeveden liet al rond 1204 een versterking bouwen voor hemzel…
Cyclone season in the Southwest Indian Ocean 1962–63 South-West Indian Ocean cyclone seasonSeason summary mapSeasonal boundariesFirst system formedOctober 6, 1962Last system dissipatedMarch 11, 1963Strongest stormNameDelia • Maximum winds185 km/h (115 mph) Seasonal statisticsTotal fatalitiesUnknownTotal damageUnknownRelated articles 1962–63 Australian region cyclone season 1962–63 South Pacific cyclone season South-West Indian Ocean tropical cyclone seasons1960–61, 1961–62,…
Entrada al Museo. Le Musée National de l’Automobile - Collection Schlumpf, Colección Schlumpf de Mulhouse (Alto Rin) Francia, es la mayor colección de automóviles del mundo, con 500 automóviles de 98 marcas, desde 1878 hasta el presente.[1] El museo, ubicado en una vieja fábrica textil, contiene la mayor colección de automóviles Bugatti del mundo, que incluye dos de los seis Bugatti Royale fabricados. Colección La colección está compuesta por 500 vehículos de 98 marcas: «El…
Nusa Tenggara BaratBekas Daerah Pemilihan / Daerah pemilihanuntuk Dewan Perwakilan RakyatRepublik IndonesiaWilayahSeluruh wilayah Nusa Tenggara BaratDaerah pemilihan bekasDibentuk1955–1959 (periode pertama); 1971Dibubarkan2019Anggota7 (1956—59, 1987—97)6 (1971—87)8 (1997—99)9 (1999—2004)10 (2004—19)Digantikan olehNusa Tenggara Barat INusa Tenggara Barat IIDibentuk dariTidak ada, daerah pemilihan baru Nusa Tenggara Barat adalah sebuah bekas daerah pemilihan dalam pemilihan umum legi…
Barentssee Lage der BarentsseeLage der Barentssee Art Nebenmeer Ozean Nördlicher Ozean Lage Zwischen Spitzbergen, Franz-Josef-Land, Nowaja Semlja und der Nordküste Europas Zuflüsse Iokanga, Kola, Paatsjoki, Sapadnaja Liza, Tanaelva, Tuloma, Titowka, Teriberka, Woronja Wichtige Inseln Kolgujew, Bäreninsel, Hopen Städte am Ufer Murmansk Daten Fläche 1.405.000 km² (Encyclopedia Britannica) Volumen 322000 km³ Maximale Tiefe 600 m (Encyclopedia Britannica) Mittlere Ti…
Rizha Información personalNombre de nacimiento Tamara Luz Ronchese BonettoNacimiento 26 de julio de 1999 (24 años)Rosario, ArgentinaNacionalidad ArgentinaCaracterísticas físicasAltura 1,72 mInformación profesionalOcupación Ver listaCantante y compositoraActriz Años activa 2007–presenteGéneros Alternative, pop, rock, rock electrónico, minimal, ambient, electropop y hyperpopInstrumentos Voz, guitarraTipo de voz MezzosopranoDiscográfica Universal Music Publishing Group (2012–2017…
Part of a series onAnarchism History Outline Schools of thought Feminist Green Primitivist Social ecology Total liberation Individualist Egoist Free-market Naturist Philosophical Mutualism Postcolonial African Black Queer Religious Christian Jewish Social Collectivist Parecon Communist Magonism Without adjectives Methodology Agorism Illegalism Insurrectionary Communization Expropriative Pacifist Platformism Especifismo Relationship Syndicalist Synthesis Theory Practice Anarchy Anarchist Black Cr…
El caudillo mayor de los escuderos del Cuerpo del Rey era un oficial de la Corona de Castilla que estaba al mando de los escuderos del monarca.[1] Historia Hay constancia de que en el reinado de Sancho IV de Castilla ya existía, para defender al monarca, una pequeña compañía o destacamento de escuderos con veintitrés hombres de a pie, aunque en 1454, durante el reinado de Juan II de Castilla, ya eran veinticuatro hombres, y en años posteriores también se les unieron algunos escuder…
この記事の主題はウィキペディアにおける独立記事作成の目安を満たしていないおそれがあります。目安に適合することを証明するために、記事の主題についての信頼できる二次資料を求めています。なお、適合することが証明できない場合には、記事は統合されるか、リダイレクトに置き換えられるか、さもなくば削除される可能性があります。出典検索?: 女人武蔵…
Penyuntingan Artikel oleh pengguna baru atau anonim untuk saat ini tidak diizinkan.Lihat kebijakan pelindungan dan log pelindungan untuk informasi selengkapnya. Jika Anda tidak dapat menyunting Artikel ini dan Anda ingin melakukannya, Anda dapat memohon permintaan penyuntingan, diskusikan perubahan yang ingin dilakukan di halaman pembicaraan, memohon untuk melepaskan pelindungan, masuk, atau buatlah sebuah akun. Artikel ini perlu dikembangkan dari artikel terkait di Wikipedia bahasa Inggris. …
Public treasury in ancient Rome The Aerarium Saturni (top) and its ruins (bottom); drawing by Jan Goeree, before 1704 Aerarium, from aes (bronze, money) + -ārium (place for), was the name given in Ancient Rome to the public treasury,[1] and in a secondary sense to the public finances.[2] Aerarium populi Romani Denarius minted by Gnaeus Nerius, who was urban quaestor in 49 BC. The obverse depicts Saturn, in whose temple the aerarium and the standards of the legions were kept…
British fascist politician Arnold Spencer LeeseLeese at an unspecified dateBornArnold Spencer Leese16 November 1878Lytham St Annes, Lancashire, EnglandDied18 January 1956 (aged 77)London, EnglandNationalityBritishAlma materGiggleswick SchoolOccupationVeterinarianKnown forAnti-Semitic writer and activistNotable workA Treatise on the One-Humped Camel in Health and in Disease (1927), My Irrelevant Defence (1938), Out of Step: Events in the Two Lives of an Anti-Jewish Camel Doctor (1951)Po…
2022 studio album by KasabianThe Alchemist's EuphoriaStudio album by KasabianReleased12 August 2022 (2022-08-12)StudioThe Sergery, Leicester, EnglandGenre Rock techno[1] Length38:05LabelSonyProducer Serge Pizzorno Fraser T. Smith Kasabian chronology For Crying Out Loud(2017) The Alchemist's Euphoria(2022) Singles from The Alchemist's Euphoria AlygatyrReleased: 26 October 2021 ScriptvreReleased: 6 May 2022 ChemicalsReleased: 3 June 2022 The WallReleased: 29 July 202…
Cover of a 1920 edition of La Gazette du bon ton. The Gazette du Bon Ton was a small but influential fashion magazine published in France from 1912 to 1925.[1][2] Founded by Lucien Vogel, the short-lived publication reflected the latest developments in fashion, lifestyle and beauty during a period of revolutionary change in art and society.[1] Distributed by Condé Nast, the magazine was issued as the Gazette du Bon Genre in the USA.[3] Both titles roughly transla…
Ernesto Che Guevara (June 14, 1928 – October 9, 1967), was an Argentine Marxist revolutionary, politician, author, intellectual, physician, military theorist, and guerrilla leader. His life, legacy, and ideas have attracted a great deal of interest from historians, artists, film makers, musicians, and biographers. In reference to the abundance of material, Nobel Prize–winning author Gabriel García Márquez has declared that it would take a thousand years and a million pages to write Che's b…
Fictional character in the Halo video game series Fictional character ArbiterHalo characterArbiter Ripa 'Moramee, as he appears in Halo Wars (2009)First appearanceHalo 2 (2004)Voiced by Keith David (Halo 2, Halo 3, and Halo 5: Guardians) David Sobolov (Halo Wars) John Gremillion (Halo Legends) Ray Chase (Killer Instinct) In the Halo science fiction universe, an Arbiter is a ceremonial, religious, and political rank bestowed upon Covenant Elites. In the 2004 video game Halo 2, the rank is given t…
2017 film by Björn Runge The WifeTheatrical release posterDirected byBjörn L. RungeScreenplay byJane AndersonBased onThe Wifeby Meg WolitzerProduced by Rosalie Swedlin Meta Louise Foldager Piers Tempest Piodor Gustafsson Claudia Bluemhube Starring Glenn Close Jonathan Pryce Christian Slater Max Irons Annie Starke Harry Lloyd Elizabeth McGovern CinematographyUlf BrantåsEdited byLena RungeMusic byJocelyn PookProductioncompanies Silver Reel Meta Film London Anonymous Content Tempo Productions Em…
Lokasi Pengunjung: 18.119.126.3