關於 pompedisease ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Pompe Disease - Duke Health

Pompe disease is a genetic disease that occurs when a specific enzyme (acid alpha-glucosidase) is absent or the body doesn't produce enough.

#12. Clinical guidelines for late-onset Pompe disease - Orphanet

Glycogen storage disease type II or Pompe disease. (OMIM Entry # 232300), also referred to as acid maltase deficiency, is a rare lysosomal storage dis-.

#13. Pompe Disease | Symptoms, Types, Treatment

A rare genetic disorder, Pompe disease is characterized by the abnormal buildup, inside cells, of a complex sugar molecule called glycogen.

#14. Pompe Disease - Physiopedia

Pompe disease is an inherited genetic disorder known as metabolic myopathy; it is also referred to as glycogen storage disease(type 2).

#15. Challenges in treating Pompe disease: an industry perspective

Abstract: Pompe disease is a rare inherited metabolic disorder of defective lysosomal glycogen catabolism due to a deficiency in acid alpha-glucosidase ...

#16. Pompe Disease: From Basic Science to Therapy | SpringerLink

Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), the enzyme that breaks ...

#17. Pompe disease - causes, symptoms, diagnosis, treatment ...

What is Pompe disease ? Pompe disease, also called glycogen storage disease type II, is a genetically inherited condition caused by ...

#18. Type II Glycogen Storage Disease (Pompe Disease)

Pompe disease (type II glycogen storage disease) is an inherited enzyme defect that usually manifests in childhood.

#19. An under-recognized cause of floppy baby syndrome

Pompe disease is an autosomal recessive disorder caused by a deficiency of the enzyme acid alpha glucosidase (GAA), which results in lysosomal accumulation of ...

#20. 症狀 - 台灣龐貝氏症協會

龐貝氏症（Pompe disease）是一種罕見的遺傳性神經肌肉疾病，屬於肝醣儲積症第二型，又稱為酸性麥芽糖酵素缺乏症，屬於體染色體隱性遺傳疾病。因為第17對染色體上的溶 ...

#21. Efficacy and Safety of Avalglucosidase Alfa in Patients With ...

Pompe disease is a rare autosomal-recessive neuromuscular disorder in which lysosomal buildup of glycogen results in progressive muscle weakness ...

#22. Pompe (Inherited Metabolic Disorders) | CUH

Pompe disease is an inherited, genetic disorder which results in the lack of an enzyme 'acid alpha-glucosidase'. Pompe disease is also known as acid maltase ...

#23. Pompe Disease: Diagnosis and Management. Evidence ...

Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Patients have skeletal muscle and respiratory ...

#24. Lysosomal acid alpha-glucosidase deficiency (Pompe ...

Acid alpha-glucosidase (GAA, also called acid maltase) deficiency (Pompe disease, MIM #232300) was the first identified lysosomal storage ...

#25. FDA Approves New Treatment for Pompe Disease

Patients with Pompe disease have an enzyme deficiency that leads to the accumulation of a complex sugar, called glycogen, in skeletal and ...

#26. Pompe Disease | Mount Sinai - New York

Pompe disease is caused by mutations in the GAA gene. Mutations in the GAA gene result in the deficiency of an enzyme, acid alpha-glucosidase, ...

#27. Adult Pompe disease: Report of a case as a differential ...

Pompe disease, or glycogen storage disease type II, is an autosomal recessive disorder due to the deficiency of lysosomal acid α-glucosidase, the enzyme ...

#28. Newborn Screening Program - Pompe Disease

Pompe disease is an inherited metabolic disorder in which harmful amounts of glycogen accumulate within lysosomes of cells. Individuals with Pompe disease ...

#29. Duke Continues to Take Extraordinary Measures to Treat ...

Pompe disease, also known as Glycogen Storage Disease Type II, is a rare genetic disease that occurs when the body can't produce enough — or, in ...

#30. Pompe Disease - Lurie Children's

For this reason, Pompe disease is also known as a glycogen storage disorder. When the body is not able to make enough GAA enzyme, glycogen builds up within the ...

#31. Pompe Disease: New Developments in an Old Lysosomal ...

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, ...

#32. Pompe disease - Newborn Screening (HRSA)

Pompe disease is an inherited (genetic) condition that prevents the body from processing sugars properly. Pompe disease is named for the first doctor to ...

#33. Clinical manifestation and natural course of late-onset ...

Pompe's disease, also known as acid maltase deficiency or glycogen storage disease type II, is an autosomal recessive disorder in which deficient activity of ...

#34. Pompe disease treated before birth | Nature Biotechnology

The disease is caused by deficiency of the lysosomal acid α-glucosidase enzyme, which leads to glycogen aggregates in tissues and is especially ...

#35. New therapies for Pompe disease: are we closer to a cure?

Enzyme replacement therapy (ERT) with recombinant human GAA, alglucosidase alfa, was approved (by the US Food and Drug Administration and the European Medicines ...

#36. Pompe Disease News, Research

Pompe disease is a rare and often fatal muscle disease caused by an inherited deficiency of the enzyme acid alpha-glucosidase, which is responsible for ...

#37. Survival and associated factors in 268 adults with Pompe ...

Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly ...

#38. Pompe Disease - Barrow Neurological Institute

Pompe disease is a rare neuromuscular disorder caused by the buildup of a complex sugar called glycogen. The accumulation of glycogen in organs and tissues ...

#39. POMS: DI 23022.280 - Pompe Disease - Infantile - 08/28/2020

Pompe disease is a rare (estimated at 1 in every 40,000 births) inherited and often fatal disorder that disables the heart and muscles.

#40. Pompe | Baby's First Test | Newborn Screening

POMPE · Acid maltase deficiency disease · Alpha-1,4-glucosidase deficiency · AMD · Deficiency of alpha-glucosidase · GAA deficiency · Glycogenosis Type II · Glycogen ...

#41. Lysosomal Storage Disease | Division of Medical Genetics

Pompe disease, (also known as Glycogen Storage Disease type II), is a type of lysosomal storage disease, meaning there is an issue in how parts of the cell ...

#42. Pompe Disease - Michigan Medicine

Pompe Disease Family Education Booklet. Division of Pediatric Genetics, Metabolism and Genomic Medicine. -1-. What is Pompe disease? Pompe disease is a ...

#43. Long-term Safety and Efficacy of Avalglucosidase Alfa in ...

Pompe disease is a rare, progressive, autosomal recessive glycogen storage disorder caused by pathogenic variants in the gene encoding acid α- ...

#44. Pompe disease - OrphanAnesthesia

from. Pompe disease. Disease name: Pompe Disease. ICD 10: E74.0. Synonyms: Glycogen storage disease due to acid maltase deficiency, Glycogen storage.

#45. 龐貝氏症(Pompe Disease) - 臺北榮民總醫院

龐貝氏症(Pompe Disease). 台灣自2005 年起開始進行全球首創的龐貝氏症新生兒篩檢. 病因：. 龐貝氏症患者先天缺少一種負責分解多餘肝醣的酵素「酸性α- ...

#46. Classic infantile‐onset Pompe disease with histopathological ...

Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α-glucosidase (GAA) with intralysosomal glycogen accumulation ...

#47. Pompe disease | Myriad Foresight® Carrier Screen

Pompe disease also called glycogen storage disease type II, is an inherited disorder where the body fails to produce enough alpha-glucosidase (also called ...

#48. What Is Pompe Disease? Symptoms, Causes, Diagnosis, and ...

Pompe disease is a rare, inherited genetic disorder in which the body cannot break down glycogen, leading to muscle weakness and an enlarged ...

#49. List of 4 Pompe disease Medications Compared - Drugs.com

Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is a neuromuscular, autosomal recessive metabolic disorder in the ...

#50. Simply Stated: Research Updates in Pompe Disease

Pompe disease is a genetic disorder caused by mutations in the GAA gene, which encodes an enzyme called acid alpha-glucosidase (GAA). To date, ...

#51. Pompe Disease History

Pompe disease comprises a continuum of phenotypes and related symptoms. The 2 main categories generally used to describe the condition, however, ...

#52. Pompe Disease and Other Genetic Disorders - Healthline

Pompe disease is an inherited disorder caused by a total absence of acid alpha-glucosidase, or GAA, an enzyme that helps break down glycogen ...

#53. Pompe disease: clinical perspectives | ODRR

Pompe disease is an autosomal recessive inherited disorder of glycogen metabolism due to a deficiency of the lysosomal enzyme, acid alpha- ...

#54. Correction of oxidative stress enhances enzyme replacement ...

Pompe disease is a metabolic myopathy due to acid alpha-glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of ...

#55. Life Saving Drugs Program resources – Pompe disease

A collection of resources for health professionals to help people with Pompe disease access alglucosidase alfa (Myozyme®) and ...

#56. Pompe Disease - newbornscreening.info

People with Pompe disease have problems breaking down a sugar called glycogen. Pompe disease belongs to two groups of diseases: glycogen storage disorder and ...

#57. Diagnostic Services for Pompe Disease - ARCHIMEDlife

Pompe disease is an inherited autosomal recessive genetic disease resulting from the reduced or absent activity of the enzyme acid α-Glucosidase (GAA). There ...

#58. 龐貝氏症(Pompe Disease) - 新生兒篩檢中心

龐貝氏症(Pompe Disease) · 家族史及家族分析 · 嬰兒及父母親之血球GAA酵素活性 · 嬰兒血球（CBC/DC）分析 · 嬰兒血液酵素分析：CK, CKMB, BNP · 嬰兒尿液Glu4分析 · 嬰兒胸部X光 ...

#59. Acid maltase deficiency (Pompe disease) - Types of Metabolic ...

What is acid maltase deficiency (also called AMD, Pompe disease, glycogenosis type 2, acid-alpha glucosidase deficiency, lysosomal storage disease)?.

#60. 232300 - GLYCOGEN STORAGE DISEASE II; GSD2 - OMIM

GSD II ACID ALPHA-GLUCOSIDASE DEFICIENCY GAA DEFICIENCY POMPE DISEASE GLYCOGENOSIS, GENERALIZED, CARDIAC FORM CARDIOMEGALIA GLYCOGENICA DIFFUSA · Phenotype-Gene ...

#61. Pompe Disease - UPMC Children's Hospital of Pittsburgh

Pompe (“Pom-pay”) disease, also known as Glycogen Storage Disease Type II, is an inherited condition caused by a faulty gene. In Pompe disease, an enzyme ...

#62. Pompe Disease Fact Sheet for Parents (infantile ... - NC DHHS

Infantile-onset Pompe disease (IOPD): Individuals with this type have low levels or no GAA. Symptoms typically begin shortly after birth and are generally more ...

#63. Pompe Disease - Campus Sanofi for healthcare professionals

As part of our commitment to early diagnosis, Sanofi supports free diagnostic testing for Pompe disease (and other selected lysosomal storage disorders). There ...

#64. Pompe Disease Program | Amicus Therapeutics

Pompe disease is a progressive, debilitating and life-threatening rare Lysosomal Disorder that results from a deficiency in an enzyme, GAA.

#65. Pompe Disease | LSDSS India

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain ...

#66. Improved efficacy of a next-generation ERT in murine Pompe ...

Pompe disease is a rare inherited disorder of lysosomal glycogen metabolism due to acid α-glucosidase (GAA) deficiency.

#67. Pompe Disease | Michigan Medicine

Pompe Disease, also called Glycogen Storage Disease Type II (GSD II), is a genetic disorder that leads to problems with storing a complex sugar called ...

#68. Pompe Disease - Johns Hopkins All Children's Hospital

Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type II. What Are the Signs & Symptoms of Pompe Disease? Children with ...

#69. Enzyme Replacement Therapy for Pompe Disease

Symptoms of Pompe Disease · Failure to grow at the expected rate for a child of the same age · Delayed motor skills · Enlarged heart · Irregular heartbeat ...

#70. Glycogen Storage Disease Type II, Acid α-Glucosidase (Acid ...

At present, “Pompe disease” stands for the very broad clinical spectrum of glycogen storage disease type II (GSDII) including infantile, childhood, and adult ...

#71. Pompe Disease (GSD2) - AGSD-UK

Ben Parker · Pompe disease is a disorder of metabolism first described in 1932 by Dr J C Pompe. · Consequently, cells cannot obtain energy from glycogen, and this ...

#72. Monitoring of pulmonary function in Pompe disease

Pompe disease is an autosomal, recessive, metabolic myopathy caused by deficiency of the lysosomal enzyme α-glucosidase, which is involved in the ...

#73. News and Expert Insights in Pompe Disease Gene Therapy ...

According to the National Organization for Rare Disorders, Pompe disease occurs in approximately 1 in 40,000 births in the United States and ...

#74. Therapeutic Benefit of Autophagy Modulation in Pompe Disease

Pompe disease, an inherited deficiency of lysosomal acid alpha-glucosidase (GAA), belongs to a group of more than 60 lysosomal storage diseases ...

#75. Pompe Disease - CT.gov

Pompe disease happens when children are missing all or some GAA. GAA is an enzyme needed to break down glycogen (a large sugar) into glucose (the form of sugar ...

#76. Pompe Disease (Acid Maltase Deficiency)

Pompe Disease is also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII) and is an autosomal recessive disorder. The ...

#77. Pompe Disease (also called Glycogen storage ...

Pompe disease, also known as Glycogen storage disease type 2 is an inherited metabolic disorder caused by an inborn lack of the enzyme acid ...

#78. Pompe disease: pathogenesis, molecular genetics and ...

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1 ...

#79. Pompe Disease - Spark Therapeutics

Pompe disease is a lysosomal storage disorder and neuromuscular disease, with systemic, multi-organ manifestations resulting from mutations in the gene ...

#80. In Utero Enzyme-Replacement Therapy for Infantile-Onset ...

Infantile-onset Pompe's disease affects 1 in 138,000 to 226,600 live births worldwide (with a higher incidence in some populations, such as 1 in ...

#81. Test ID: PDBS Pompe Disease, Blood Spot

Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha- ...

#82. Pompe Disease - Stanford Medicine Children's Health

Pompe disease, or glycogen storage disease type II, is a genetic condition that causes tissue in the heart and skeleton to break down.

#83. Pompe Disease - PAN Foundation

Pompe disease, also known as glycogen storage disease type II, acid maltase deficiency disease, and acid maltase deficiency disease, is a genetic disorder ...

#84. Pompe disease as a differential diagnosis of motor neuron ...

Pompe disease as a differential diagnosis of motor neuron disease: report of a case and review of the literature. Acta Neurol Colomb. [online].

#85. Observational Study for Subjects With Pompe Disease ...

Hypothesis: the effectiveness of treatment of Pompe Disease with rhGAA enzyme replacement therapy (ERT) is limited at least in part because patients develop ...

#86. Pompe Disease - Practical Neurology

Pompe disease is a rare metabolic myopathy caused by a deficiency of the alpha-glucosidase (GAA) enzyme, which is involved the breakdown of glycogen.

#87. Molecular study of Pompe disease in Egyptian infants

Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation ...

#88. Pompe Disease - Child Neurology Foundation

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.

#89. Pompe Disease: What You Need to Know©2010

Pompe disease is also known as Acid Maltase Deficiency or. Glycogen Storage Disease type II. This condition is caused by the buildup of a complex sugar called ...

#90. Cipaglucosidase alfa with miglustat in the treatment of late ...

... alfa with miglustat in the treatment of adult patients with late-onset Pompe disease previously treated with alglucosidase alfa.

#91. Newborn Screening - Pompe Disease

Pompe disease is a rare, progressive, and life-threatening genetic lysosomal storage disorder that affects many parts of the body including the muscles, ...

#92. Pompe Disease

Pompe disease is an ultra-orphan disease that is currently diagnosed in less than 200 people in the United Kingdom. There are many good online references ...

#93. Pompe disease - Neuromuscular Barcelona

Pompe disease is a hereditary myopathy caused by mutations in the alpha-glucosidase gene. This enzyme metabolizes glycogen in the interior of the lysosomes ...

#94. Glycogen storage disease type II | Radiology Reference Article

Glycogen storage disease type II, also known as Pompe disease or acid maltase deficiency disease, is an inherited lysosomal storage disorder ...

#95. About Pompe Disease - Canadian Association of Pompe

Pompe disease is an inherited disease. More specifically, it is an autosomal recessive genetic disease. For a person to develop the condition, they had to ...

#96. AT845 – Pompe Disease - Astellas Gene Therapies

Pompe disease is a severe, progressive, congenital neuromuscular disease. The overall incidence is estimated to be approximately 1 in 40,000 births 1, although ...

#97. Pompe's Disease Symptoms and Treatments - Verywell Health

Pompe disease, also known as glycogen storage disease type II (GSD-II) or acid maltase deficiency, is one of 49 known lysosomal storage ...

#98. Pompe Disease | Rady Children's Hospital

Pompe disease is a rare genetic condition that causes muscle weakness that gets worse over time. It can have a serious effect on many of the body's systems.

#99. Pompe disease - Sigma-Aldrich

pompe disease · Monoclonal Anti-GAA antibody produced in mouse clone 3C6, purified immunoglobulin, buffered aqueous (2) · 4-Methylumbelliferyl-α-D- ...