Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. ... <看更多>
「gaucher sdisease」的推薦目錄：
gaucher sdisease 在 Gaucher Disease - NORD (National Organization for Rare ... 的相關結果
Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful ... ... <看更多>
gaucher sdisease 在 Gaucher disease - Genetics - MedlinePlus 的相關結果
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among ... ... <看更多>
gaucher sdisease 在 What Is Gaucher Disease? 的相關結果
Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person will get Gaucher Disease ... ... <看更多>
gaucher sdisease 在 Gaucher Disease: Causes, Symptoms & Treatment 的相關結果
Gaucher disease is an inherited condition (passed down through families). It is a lysosomal storage disorder, a type of disease that causes ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - GeneReviews® - NCBI Bookshelf 的相關結果
Gaucher disease (GD) is caused by deficient activity of the lysosomal enzyme glucocerebrosidase and the resultant accumulation of its undegraded substrate, ... ... <看更多>
gaucher sdisease 在 About Gaucher Disease - National Human Genome Research ... 的相關結果
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Medscape Reference 的相關結果
Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. ... <看更多>
gaucher sdisease 在 Gaucher Disease: Causes, Symptoms, and Treatment - WebMD 的相關結果
Gaucher disease isn't something you "catch," like a cold or the flu. It's an inherited condition that's caused by a problem with the GBA gene. ... <看更多>
gaucher sdisease 在 Gaucher Disease - Pediatrics - MSD Manuals 的相關結果
Gaucher disease is a sphingolipidosis resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside. · There are 3 types, which vary in ... ... <看更多>
gaucher sdisease 在 National Gaucher Disease Treatment Center 的相關結果
Welcome to the Yale School of Medicine Lysosomal Disease Center website. ... and education in Gaucher disease, the prototype lysosomal storage disease. ... <看更多>
gaucher sdisease 在 Gaucher disease: Pathogenesis, clinical manifestations, and ... 的相關結果
Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. Glucocerebroside (also called ... ... <看更多>
gaucher sdisease 在 Gaucher Disease: Recommendations on Diagnosis ... 的相關結果
BackgroundTimely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable ... ... <看更多>
gaucher sdisease 在 Predicting the probability of Gaucher disease in subjects with ... 的相關結果
Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several ... ... <看更多>
gaucher sdisease 在 Gaucher disease - Orphanet 的相關結果
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement ... ... <看更多>
gaucher sdisease 在 Gaucher's Disease - an overview | ScienceDirect Topics 的相關結果
Gaucher's disease is a lysosomal glycolipid storage disorder characterized by the accumulation of glucocerebroside in tissues as a result of a deficiency in ... ... <看更多>
gaucher sdisease 在 Correction of pathology in mice displaying Gaucher disease ... 的相關結果
Gaucher disease (GD) belongs to the family of lysosomal disorders and is inherited in an autosomal recessive manner. ... <看更多>
gaucher sdisease 在 Gaucher Disease > Fact Sheets > Yale Medicine 的相關結果
Gaucher disease is a rare, inherited disorder that causes fatty substances to build up in the spleen, liver, and other organs. Finding a doctor to diagnose ... ... <看更多>
gaucher sdisease 在 Identification of risk features for complication in Gaucher's ... 的相關結果
Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the ... ... <看更多>
gaucher sdisease 在 Ophthalmic manifestations of Gaucher disease - British ... 的相關結果
Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme's metabolites, ... ... <看更多>
gaucher sdisease 在 A Review of Gaucher Disease Pathophysiology, Clinical ... 的相關結果
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, ... ... <看更多>
gaucher sdisease 在 Gaucher Disease | Mount Sinai - New York 的相關結果
Gaucher disease is caused by mutations in the GBA gene. Mutations in the GBA gene result in reduced activity of an enzyme in the body called acid ... ... <看更多>
gaucher sdisease 在 Gaucher disease - Britannica 的相關結果
Gaucher disease, rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, ... ... <看更多>
gaucher sdisease 在 Difficulties in the Diagnosis of Gaucher Disease in a Low ... 的相關結果
Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. ... <看更多>
gaucher sdisease 在 Gaucher Disease: 5 Types, Symptoms, Treatment, Causes ... 的相關結果
Gaucher disease (sometimes called Gaucher's disease) is an inherited condition that results in the abnormal accumulation of fatty substances known as ... ... <看更多>
gaucher sdisease 在 Diagnostic Services for Gaucher Disease - ARCHIMEDlife 的相關結果
Gaucher disease is part of a group of lipid storage disorders affecting lipid metabolism in lysosomes. It is caused by a genetic mutation and results in a toxic ... ... <看更多>
gaucher sdisease 在 Gaucher's disease: Causes, treatment, and outlook - Medical ... 的相關結果
Gaucher's disease results from a hereditary enzyme deficiency. It can lead to a range of symptoms, including a swollen abdomen, anemia, and a susceptibility ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Takeda 的相關結果
Gaucher disease results from abnormal deposits of a fatty substance, known as glucocerebroside or also called glucosylceramide. ... <看更多>
gaucher sdisease 在 Age at disease onset and life expectancy | Gaucher Institute 的相關結果
Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis. ... <看更多>
gaucher sdisease 在 OMIM Entry - # 230800 - GAUCHER DISEASE, TYPE I; GD1 的相關結果
Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, ... ... <看更多>
gaucher sdisease 在 Gaucher's Disease - All Rights (Kol-Zchut) - כל-זכות 的相關結果
Gaucher's disease is a hereditary disease in which there is a decrease in the activity of an enzyme in the body called glucocerebrosidase. ... <看更多>
gaucher sdisease 在 Gaucher Disease - Children's Health Issues - Merck Manuals 的相關結果
In Gaucher disease, glucocerebrosides, which are a product of fat metabolism, accumulate in tissues. The disease is most common among Ashkenazi (Eastern ... ... <看更多>
gaucher sdisease 在 Small Molecule Chaperones for the Treatment of Gaucher ... 的相關結果
Mutations in the glucocerebrosidase gene (GBA1), implicated in the rare, autosomal recessive lysosomal disorder Gaucher disease, are the most ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Brain Foundation 的相關結果
Gaucher disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body ... ... <看更多>
gaucher sdisease 在 What is Gaucher Disease: Symptoms, Diagnosis & Treatment 的相關結果
Gaucher disease is a rare, inherited disease in which fatty deposits accumulate in critical organs and body systems, damaging them. ... <看更多>
gaucher sdisease 在 POMS: DI 23022.180 - Gaucher Disease (GD) - Type 2 的相關結果
Gaucher Disease (GD) is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Physiopedia 的相關結果
which a dangerous level of a fatty substance called glucocerebroside collects in the liver, spleen, bone marrow, lungs, and at times in the brain. Gaucher ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Pediatrics - Orthobullets 的相關結果
Gaucher Disease is a congenital lysosomal storage disorder caused by an autosomal recessive mutation in B-glucocerebrosidase. ... <看更多>
gaucher sdisease 在 What is Gaucher Disease? | Icahn School of Medicine 的相關結果
Gaucher disease manifests when there is an abnormal accumulation of Gaucher cells, primarily in the bone marrow, spleen, and liver. Only Types II and III ... ... <看更多>
gaucher sdisease 在 Gaucher disease | Radiology Reference Article - Radiopaedia 的相關結果
Gaucher disease (GD) is the most common lysosomal storage disorder in humans. It is an autosomal recessive, multisystem disease arising from ... ... <看更多>
gaucher sdisease 在 Gaucher Disease in Bone: From Pathophysiology to Practice 的相關結果
Gaucher disease (GD) is a lysosomal disorder leading to lipid accumulation. The lysosome is an intracellular organelle that degrades and ... ... <看更多>
gaucher sdisease 在 Gaucher disease - UF Health 的相關結果
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). ... <看更多>
gaucher sdisease 在 Gaucher | Baby's First Test | Newborn Screening 的相關結果
In fact, many babies with Gaucher disease type 2 do not live long enough to develop some of the symptoms found in Gaucher disease type 1 or type 3. Signs of ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Health Encyclopedia - URMC 的相關結果
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that ... ... <看更多>
gaucher sdisease 在 Life Saving Drugs Program resources – Gaucher disease 的相關結果
A collection of resources for health professionals to help people with Gaucher disease (type 1) access the following drugs under the Life ... ... <看更多>
gaucher sdisease 在 Mice with type 2 and 3 Gaucher disease point mutations ... 的相關結果
Gaucher disease is caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GC). Three clinical types of Gaucher disease have been ... ... <看更多>
gaucher sdisease 在 Newborn Screening Program - Gaucher Disease - IDPH 的相關結果
Gaucher disease is an inherited metabolic disorder in which harmful amounts of a sphingolipid called glucocerebroside accumulate within lysosomes of cells. ... <看更多>
gaucher sdisease 在 Gaucher disease and other storage disorders - ASH ... 的相關結果
Examples include age-related neurodegenerative diseases (eg, Parkinson disease and Gaucher disease), idiopathic hypertrophic ... ... <看更多>
gaucher sdisease 在 Gaucher disease - MyHealth Alberta 的相關結果
Gaucher disease is an inherited disorder caused by the deficiency of the enzyme glucocerebrosidase. This enzyme deficiency leads to the buildup of a fatty ... ... <看更多>
gaucher sdisease 在 Gaucher disease Definition & Meaning - Merriam-Webster 的相關結果
The meaning of Gaucher disease is a rare hereditary disorder of lipid metabolism caused by an enzyme deficiency and characterized by enlargement of the ... ... <看更多>
gaucher sdisease 在 Gaucher disease: a strategic collaborative approach from the ... 的相關結果
Gaucher disease : a strategic collaborative approach from the European Medicines Agency and Food and Drug Administration. Table of contents. Current version - ... ... <看更多>
gaucher sdisease 在 Gaucher Disease | UVA Health 的相關結果
Gaucher disease is a rare, genetic disease that causes the abnormal storage of fatty substances by limiting the production of a fat-processing enzyme. ... <看更多>
gaucher sdisease 在 Gaucher disease information - Patient.info 的相關結果
Often presents in childhood with hepatosplenomegaly, pancytopenia and skeletal disease. · The severity of type 1 Gaucher's disease is extremely ... ... <看更多>
gaucher sdisease 在 Recommendations on Diagnosis, Treatment, and Monitoring ... 的相關結果
Clinical Presentation of Gaucher Disease. As with most genetic diseases, the signs and symptoms of GD present along a continuum, ranging from the lethal ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Stanford Children's Health 的相關結果
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that ... ... <看更多>
gaucher sdisease 在 How is Gaucher disease inherited? - Cerdelga 的相關結果
Gaucher disease is hereditary, which means that the genes for the disease are passed from one generation to the next. A person with just one gene for ... ... <看更多>
gaucher sdisease 在 Decreased salivary output in patients with Gaucher disease 的相關結果
Abstract. Background: Gaucher disease, the most common sphingolipid storage disease, results in accumulation of glucocerebroside in macrophages or 'Gaucher ... ... <看更多>
gaucher sdisease 在 Types of Gaucher Disease 的相關結果
Gaucher disease is an inherited condition in which a fat molecule called glucocerebroside accumulates in different organs and tissues in the body. ... <看更多>
gaucher sdisease 在 Gaucher Disease 的相關結果
Gaucher disease (pronounced "Go-shay") is a rare, inherited disorder caused by a defective gene. The defective gene prevents the body from producing proper ... ... <看更多>
gaucher sdisease 在 Overview of Gaucher Disease - Verywell Health 的相關結果
Gaucher disease is a lysosomal storage disease causing symptoms of the bone, blood, spleen, and liver. Treatment success varies based on ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - AVROBIO 的相關結果
Gaucher disease at a glance · Rare, inherited lysosomal disorder in which harmful amounts of fatty materials, or lipids, accumulate in macrophages within tissues ... ... <看更多>
gaucher sdisease 在 About Gaucher 的相關結果
Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells. These cells are the hallmark of this disease. Gaucher disease is the most ... ... <看更多>
gaucher sdisease 在 Gaucher Disease | Children's Hospital Pittsburgh 的相關結果
Gaucher (“Gow-shay”) disease is an inherited condition caused by a faulty gene. In Gaucher disease, an enzyme the body needs to break down a certain type of ... ... <看更多>
gaucher sdisease 在 Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is ... 的相關結果
Gaucher disease (GD), the most common lysosomal storage disease, is caused by mutations in GBA1 encoding of β-glucocerebrosidase (GCase). ... <看更多>
gaucher sdisease 在 A Case Report of Gaucher Disease | Reumatología Clínica 的相關結果
Gaucher disease (GD), described in 1882 by Philippe Charles Ernest Gaucher, is a progressive, rare hereditary disease, with an autosomal recessive ... ... <看更多>
gaucher sdisease 在 Pathogenesis of Bone Alterations in Gaucher Disease - Hindawi 的相關結果
Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include ... ... <看更多>
gaucher sdisease 在 Helpful information about Gaucher disease – Eugene Australia 的相關結果
Gaucher disease is part of a group of conditions known as lysosomal storage disorders and results from not having enough of an important enzyme that breaks ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - BrainFacts.org 的相關結果
Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases. Lipids are fatty materials that include oils, ... ... <看更多>
gaucher sdisease 在 A Mutation in the Human Glucocerebrosidase Gene in ... 的相關結果
Abstract To search for a genetic marker for type 2 Gaucher's disease (acute neuronopathic form), we compared the nucleotide sequence of a ... ... <看更多>
gaucher sdisease 在 Therapy of adult Gaucher disease | Haematologica 的相關結果
The standard therapy for adult visceral Gaucher disease is enzyme replacement therapy (ERT). After being introduced in 1991, currently more than ... ... <看更多>
gaucher sdisease 在 What is Gaucher disease? | Cerezyme® (imiglucerase) 的相關結果
Gaucher (pronounced go-shay) disease is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide (gloo-ko-sil- ... ... <看更多>
gaucher sdisease 在 511048: Gaucher Disease, DNA Analysis | Labcorp 的相關結果
Gaucher disease (OMIM 230800) is an autosomal recessive disorder caused by a decrease in the levels of the enzyme glucocerebrosidase. Decreased levels of ... ... <看更多>
gaucher sdisease 在 Rare Disease Series #16: Gaucher Disease - 3billion 的相關結果
GAUCHER DISEASE is one of the most well known rare genetic metabolic disorder. it is also part of the disease group called lysosomal storage ... ... <看更多>
gaucher sdisease 在 Gaucher Disease (GBA) - Sema4 的相關結果
Gaucher Disease (GBA). Gaucher disease is an autosomal recessive disease caused by pathogenic variants in the gene GBA. While it is found in populations ... ... <看更多>
gaucher sdisease 在 Gaucher Disease Article - StatPearls 的相關結果
Gaucher disease is an autosomal recessive inborn error of metabolism due to the toxic accumulation of glucocerebroside lipids in various ... ... <看更多>
gaucher sdisease 在 Gaucher Disease | Test Fact Sheet - ARUP Consult 的相關結果
Gaucher disease (GD) is a lysosomal storage disease most often affecting individuals of Ashkenazi Jewish (AJ) descent. GD type 1 is the most common form ... ... <看更多>
gaucher sdisease 在 Imaging of non-neuronopathic Gaucher disease 的相關結果
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation ... ... <看更多>
gaucher sdisease 在 Test ID: GBAZ Gaucher Disease, Full Gene Analysis, Varies 的相關結果
GBAZ : Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected ... ... <看更多>
gaucher sdisease 在 A Novel Case of Gaucher's Disease Associated with ... 的相關結果
RATIONALE: Gaucher's disease (GD), the most common lysosomal storage disorder, is marked by deficient activity of the lysosomal enzyme glucocerebrosidase ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - QPS Neuropharmacology 的相關結果
Gaucher disease (GD) is the most common lysosomal storage disorder. The main pathological hallmark is the intracellular accumulation of glucosylceramide. ... <看更多>
gaucher sdisease 在 Finding and Treating Gaucher Disease Type 1 – The Role of ... 的相關結果
Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews. ... <看更多>
gaucher sdisease 在 Gaucher disease - Cancer Therapy Advisor 的相關結果
Beware of other conditions that can mimic Gaucher disease: Because of the anemia, thrombocytopenia and splenomegaly, the differential diagnosis includes: ... ... <看更多>
gaucher sdisease 在 Oral Aspects of Gaucher's Disease 的相關結果
KEY WORDS. Gaucher disease; gingival hemorrhage; oral manifestations; periodontal diseases. Gaucher's disease (GD) is the most common entity among lysosomal ... ... <看更多>
gaucher sdisease 在 Gaucher Disease \ Lysosomal Storage Disorders \ Patients ... 的相關結果
Gaucher disease is characterised by the deposition of glucocerebroside in cells of the macrophage/monocyte system caused by a mutation to the GBA1 gene ... ... <看更多>
gaucher sdisease 在 Epidemiology and natural history of Gaucher's disease 的相關結果
Type I Gaucher's disease occurs mainly in adults and is the commonest lysosomal storage disorder. Experience in the UK suggests over 90 to 95% of patients have ... ... <看更多>
gaucher sdisease 在 Gaucher disease - Haute Autorité de Santé 的相關結果
PNDS Gaucher Disease. 4. Updating of PNDS/Long-Term Condition. The French National Diagnosis and Treatment Protocol (PNDS) for. Gaucher disease was drafted ... ... <看更多>
gaucher sdisease 在 Gaucher Disease: Clinical, Biological and Therapeutic Aspects 的相關結果
Gaucher disease (GD) is caused by a functional deficiency of the acid hydrolase, β-glucocerebrosidase (GBA), or glucosylceramide (EC 3.2.1.45) [ ... ... <看更多>
gaucher sdisease 在 Animal models for Gaucher disease research - The Company ... 的相關結果
Gaucher disease (GD), the most common lysosomal storage disorder (LSD), is caused by the defective activity of the lysosomal hydrolase ... ... <看更多>
gaucher sdisease 在 Gaucher Disease - Child Neurology Foundation 的相關結果
Type 3 (or chronic neuropathic Gaucher disease) includes signs of brain involvement, seizures, skeletal irregularities, eye movement disorders, cognitive ... ... <看更多>
gaucher sdisease 在 Novel Drugs are Being Investigated for Gaucher's Disease 的相關結果
Gaucher's Disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase leads to the accumulation of ... ... <看更多>
gaucher sdisease 在 Bone marrow nonneoplastic - Gaucher disease - Pathology ... 的相關結果
Gaucher disease · Definition / general · Case reports · Treatment · Microscopic (histologic) description · Peripheral smear description · Positive stains. ... <看更多>
gaucher sdisease 在 Pulmonary Manifestations of Gaucher Disease - ATS Journals 的相關結果
Pulmonary disease is a complication of Gaucher disease (GD), a lysosomal disorder due to the deficiency of glucocerebrosidase. ... <看更多>
gaucher sdisease 在 Gaucher Disease | CheckRare 的相關結果
Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells ... ... <看更多>
gaucher sdisease 在 Gaucher Disease: Steven's Story - Children's Hospital of ... 的相關結果
When Diana Huang learned her nephew, Steven, was sick with Gaucher disease in his native China, she helped him come to The Children's Hospital of ... ... <看更多>
gaucher sdisease 在 What You Need to Know About Gaucher Disease 的相關結果
A: Gaucher disease is a rare, inherited disease. It was first described by Dr. Philippe Gaucher in 1882 and is caused by genetic mutations ... ... <看更多>
gaucher sdisease 在 Managing Gaucher disease | HealthPartners 的相關結果
Gaucher disease is a lipid storage disease. This means fatty substances (called Gaucher cells) build up and negatively affect your liver, spleen and bones. ... <看更多>
gaucher sdisease 在 Gaucher Disease - Harvard Health 的相關結果
What Is It?Gaucher Disease (GD) is an inherited condition that can damage many different parts of the body. Damage occurs when a type of fat ... ... <看更多>
gaucher sdisease 在 Gaucher Disease: Early intervention can prevent the progress... 的相關結果
There is no cure for Gaucher disease, although bone marrow transplantation has been effective in a small percentage of patients and gene therapy appears to be ... ... <看更多>
gaucher sdisease 在 Gaucher disease - Symptoms and causes - Mayo Clinic 的相關結果
Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This ... ... <看更多>