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Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Lysosomal_Acid_Lipase_Deficiency> ?p ?o. }

• Lysosomal_Acid_Lipase_Deficiency abstract "Lysosomal acid lipase deficiency (or LAL deficiency) happens when the body does not produce enough active lysosomal acid lipase (LAL or LIPA) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that suffer from LAL Deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver, spleen, gut, in the wall of blood vessels and other important organs.Very low levels of the LAL enzyme lead to early onset LAL Deficiency, sometimes called Wolman disease after the physician who first described it. Early onset LAL Deficiency typically affects infants in the first year of life. The accumulation of fat in the walls of the gut in early onset disease leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food. Because of these digestive complications, affected infants usually fail to grow and gain weight at the expected rate for their age (failure to thrive). As the disease progresses, other complications develop including increasing liver dysfunction or liver failure. Very few infants with Wolman disease survive beyond the first year of life.Late onset LAL Deficiency is sometimes called Cholesteryl ester storage disease (CESD) and can affect children and adults. The deficiency of the LAL enzyme leads to a build-up of fat in the liver, spleen and other parts of the body. The build-up of fat in the liver and spleen can cause many problems including:Swelling of the liver (‘fatty’ liver or hepatomegaly)Abnormal liver tests (high AST or ALT)Scarring of the liver (liver fibrosis or cirrhosis)Swelling of the spleen (splenomegaly)Infants, children and adults are at risk for significant health problems and premature death from complications due to LAL Deficiency. Lysosomes are found in the body’s cells and play an important role in digesting nutrients and other materials. Lysosomal Storage Disorders (LSDs) are inherited conditions in which one or more of the enzymes in lysosomes is missing or not functioning effectively. When this happens, materials that would normally be broken down by the lysosome accumulate and this disturbs normal cell function.".
• Lysosomal_Acid_Lipase_Deficiency diseasesdb "31220".
• Lysosomal_Acid_Lipase_Deficiency icd10 "E75.5".
• Lysosomal_Acid_Lipase_Deficiency icd9 "272.7".
• Lysosomal_Acid_Lipase_Deficiency omim "278000".
• Lysosomal_Acid_Lipase_Deficiency wikiPageExternalLink www.hideandseek.org.
• Lysosomal_Acid_Lipase_Deficiency wikiPageExternalLink www.lalsolace.org.
• Lysosomal_Acid_Lipase_Deficiency wikiPageExternalLink 278000.
• Lysosomal_Acid_Lipase_Deficiency wikiPageExternalLink 613497.
• Lysosomal_Acid_Lipase_Deficiency wikiPageExternalLink www.rarediseases.org.
• Lysosomal_Acid_Lipase_Deficiency wikiPageID "30896077".
• Lysosomal_Acid_Lipase_Deficiency wikiPageRevisionID "579044224".
• Lysosomal_Acid_Lipase_Deficiency diseasesdb "31220".
• Lysosomal_Acid_Lipase_Deficiency hasPhotoCollection Lysosomal_Acid_Lipase_Deficiency.
• Lysosomal_Acid_Lipase_Deficiency icd "272.7".
• Lysosomal_Acid_Lipase_Deficiency icd "E75.5".
• Lysosomal_Acid_Lipase_Deficiency name "Lysosomal acid lipase deficiency".
• Lysosomal_Acid_Lipase_Deficiency omim "278000".
• Lysosomal_Acid_Lipase_Deficiency subject Category:Articles_created_via_the_Article_Wizard.
• Lysosomal_Acid_Lipase_Deficiency subject Category:Autosomal_recessive_disorders.
• Lysosomal_Acid_Lipase_Deficiency subject Category:Lipid_storage_disorders.
• Lysosomal_Acid_Lipase_Deficiency subject Category:Rare_diseases.
• Lysosomal_Acid_Lipase_Deficiency type Abstraction100002137.
• Lysosomal_Acid_Lipase_Deficiency type Attribute100024264.
• Lysosomal_Acid_Lipase_Deficiency type AutosomalRecessiveDisorders.
• Lysosomal_Acid_Lipase_Deficiency type Condition113920835.
• Lysosomal_Acid_Lipase_Deficiency type Disorder114052403.
• Lysosomal_Acid_Lipase_Deficiency type LipidStorageDisorders.
• Lysosomal_Acid_Lipase_Deficiency type PhysicalCondition114034177.
• Lysosomal_Acid_Lipase_Deficiency type State100024720.
• Lysosomal_Acid_Lipase_Deficiency type Disease.
• Lysosomal_Acid_Lipase_Deficiency type Situation.
• Lysosomal_Acid_Lipase_Deficiency comment "Lysosomal acid lipase deficiency (or LAL deficiency) happens when the body does not produce enough active lysosomal acid lipase (LAL or LIPA) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that suffer from LAL Deficiency experience a range of serious health problems.".
• Lysosomal_Acid_Lipase_Deficiency label "Deficyt lizosomalnej kwaśnej lipazy".
• Lysosomal_Acid_Lipase_Deficiency label "Lysosomal Acid Lipase Deficiency".
• Lysosomal_Acid_Lipase_Deficiency sameAs Deficyt_lizosomalnej_kwaśnej_lipazy.
• Lysosomal_Acid_Lipase_Deficiency sameAs m.0gg559p.
• Lysosomal_Acid_Lipase_Deficiency sameAs Q6710283.
• Lysosomal_Acid_Lipase_Deficiency sameAs Q6710283.
• Lysosomal_Acid_Lipase_Deficiency sameAs Lysosomal_Acid_Lipase_Deficiency.
• Lysosomal_Acid_Lipase_Deficiency wasDerivedFrom Lysosomal_Acid_Lipase_Deficiency?oldid=579044224.
• Lysosomal_Acid_Lipase_Deficiency isPrimaryTopicOf Lysosomal_Acid_Lipase_Deficiency.
• Lysosomal_Acid_Lipase_Deficiency name "Lysosomal acid lipase deficiency".