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- Wolman_disease abstract "Wolman disease (also known as Wolman’s disease or early onset lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain lipids inside the cells. Deficiency of the LAL/LIPA enzyme causes a build-up of fat in the liver, gut and other parts of the body. Wolman disease belongs to a group of diseases known as lysosomal storage disorders (LSDs). Lysosomes function as recycling centers within cells breaking down a number of unwanted materials into substances that the cell can reuse. Enzymes are highly specialized proteins within lysosomes that break down or digest particular nutrients, such as certain fats and carbohydrates. When these enzymes are defective or missing altogether because of genetic mutations, LSDs develop as a result of abnormal build-up of material in the body's cells. Wolman disease is the early onset form of LAL Deficiency. This form of the disease typically develops during the first few weeks or month of life. Late onset form which is known as Cholesteryl ester storage disease (CESD) typically presents later in childhood or even adulthood.".
- Wolman_disease diseasesdb "31220".
- Wolman_disease icd10 "E75.5".
- Wolman_disease icd9 "272.7".
- Wolman_disease meshId "D015223".
- Wolman_disease omim "278000".
- Wolman_disease thumbnail Autorecessive.svg?width=300.
- Wolman_disease wikiPageExternalLink www.clinicaltrials.gov.
- Wolman_disease wikiPageExternalLink results?term=synageva.
- Wolman_disease wikiPageExternalLink www.hideandseek.org.
- Wolman_disease wikiPageExternalLink www.lalsolace.org.
- Wolman_disease wikiPageExternalLink adrenalcalcifcorrect.html.
- Wolman_disease wikiPageExternalLink medlinkcontent.asp.
- Wolman_disease wikiPageExternalLink index.php?title=Wolman_disease.
- Wolman_disease wikiPageExternalLink www.rarediseases.org.
- Wolman_disease wikiPageExternalLink www.synageva.com.
- Wolman_disease wikiPageExternalLink symptoms.htm.
- Wolman_disease wikiPageID "3267130".
- Wolman_disease wikiPageRevisionID "586079947".
- Wolman_disease diseasesdb "31220".
- Wolman_disease hasPhotoCollection Wolman_disease.
- Wolman_disease icd "272.7".
- Wolman_disease icd "E75.5".
- Wolman_disease meshid "D015223".
- Wolman_disease name "Wolman disease".
- Wolman_disease omim "278000".
- Wolman_disease wordnet_type synset-disease-noun-1.
- Wolman_disease subject Category:Autosomal_recessive_disorders.
- Wolman_disease subject Category:Lipid_storage_disorders.
- Wolman_disease subject Category:Rare_diseases.
- Wolman_disease type Abstraction100002137.
- Wolman_disease type Attribute100024264.
- Wolman_disease type AutosomalRecessiveDisorders.
- Wolman_disease type Condition113920835.
- Wolman_disease type Disease114070360.
- Wolman_disease type Disorder114052403.
- Wolman_disease type IllHealth114052046.
- Wolman_disease type Illness114061805.
- Wolman_disease type LipidStorageDisorders.
- Wolman_disease type PathologicalState114051917.
- Wolman_disease type PhysicalCondition114034177.
- Wolman_disease type State100024720.
- Wolman_disease type Disease.
- Wolman_disease type AilmentCondition.
- Wolman_disease type Situation.
- Wolman_disease comment "Wolman disease (also known as Wolman’s disease or early onset lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain lipids inside the cells. Deficiency of the LAL/LIPA enzyme causes a build-up of fat in the liver, gut and other parts of the body. Wolman disease belongs to a group of diseases known as lysosomal storage disorders (LSDs).".
- Wolman_disease label "Choroba Wolmana".
- Wolman_disease label "Enfermedad de Wolman".
- Wolman_disease label "Maladie de Wolman".
- Wolman_disease label "Malattia di Wolman".
- Wolman_disease label "Wolman disease".
- Wolman_disease label "Wolman-Krankheit".
- Wolman_disease sameAs Wolman-Krankheit.
- Wolman_disease sameAs Enfermedad_de_Wolman.
- Wolman_disease sameAs Maladie_de_Wolman.
- Wolman_disease sameAs Malattia_di_Wolman.
- Wolman_disease sameAs Choroba_Wolmana.
- Wolman_disease sameAs m.0929d1.
- Wolman_disease sameAs Q2061846.
- Wolman_disease sameAs Q2061846.
- Wolman_disease sameAs 1204.
- Wolman_disease sameAs 4187.
- Wolman_disease sameAs Wolman_disease.
- Wolman_disease wasDerivedFrom Wolman_disease?oldid=586079947.
- Wolman_disease depiction Autorecessive.svg.
- Wolman_disease isPrimaryTopicOf Wolman_disease.
- Wolman_disease name "Wolman disease".
