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#1. Mucopolysaccharidosis Type I - GeneReviews - NCBI
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity.
#2. Mucopolysaccharidosis type I - Genetics - MedlinePlus
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. Explore symptoms, inheritance, genetics of this ...
#3. Mucopolysaccharidoses - Symptoms, Causes, Treatment
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells.
#4. Entry - #607014 - HURLER SYNDROME - OMIM
607014 - HURLER SYNDROME - MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H. ... phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, ...
#5. Mucopolysaccharidosis type 1 - Orphanet
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group ... Clinical genetics review; English (2021) - GeneReviews.
#6. Biochemical and molecular analysis in mucopolysaccharidoses
Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit ... Mucopolysaccharidosis type I. In: GeneReviews at GeneTests: ...
#7. Mucopolysaccharidosis Type I -- GeneReviews(®) | Semantic Scholar
Overall, this study showed that there are promising phase-I and -II trials testing the safety and feasibility of gene editing in different clinical settings ...
#8. Alpha-Iduronidase Enzyme Activity - Mucopolysaccharidosis ...
Mucopolysaccharidosis type I (MPS I) is a progressive disorder that ranges in severity and ... GeneReviews, University of Washington, Seattle; 1993-2022.
#9. Mucopolysaccharidosis Type I - DECIPHER v11.18
Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common. Source: GeneReviews – NBK1162. Variants. There are 18 variants ...
#10. Lysosomal Disorders and Mucopolysaccharidosis Panel
Genes in the Lysosomal Disorders and Mucopolysaccharidosis Panel and their clinical significance ... GeneReviews - Mucopolysaccharidosis Type I.
#11. Mucopolysaccharidosis type II - Newborn Screening
Visit GeneReviews to learn more about how often this condition occurs. Screening Finding. Decreased iduronate-2-sulfatase (I2S) enzyme activity ...
#12. Mucopolysaccharidosis - Wikipedia
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called ...
#13. Pompe Disease Mucopolysaccharidosis Type I (MPS I)
GeneReviews – Technical summary of Pompe disease. Mucopolysaccharidosis Type I (MPS I). MPS I is an inherited disorder caused by an enzyme deficiency that ...
#14. Mucopolysaccharidosis type I - Labcorp Women's Health
mucopolysaccharides.1,2 The symptoms of mucopolysaccharidosis type I are due to the ... Clarke L and Heppner J. Mucopolysaccharidosis Type I. GeneReviews ...
#15. Mucopolysaccharidosis I (MPS I) - Springer Link
'Mucopolysaccharidosis I (MPS I)' published in 'Atlas of Genetic Diagnosis and Counseling' ... Mucopolysaccharidosis type I. GeneReviews.
#16. Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI)
The mucopolysaccharidoses (MPSs) are a group of inherited disorders that result from the deficiency of 1 or more of the lysosomal enzymes ...
#17. Clinical, Biochemical and Molecular Characteristics of Fifteen ...
Mucopolysaccharidosis Type II (MPS II, Hunter syndrome,. OMIM 309900) is one of the seven types ... K, Amemiya A, Ledbetter N (eds) GeneReviews® [Internet].
#18. Mucopolysaccharidosis IVA: Diagnosis, Treatment, and ...
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) ... In GeneReviews® ; University of Washington: Seattle, WA, USA, 1993.
#19. Mucopolysaccharidosis Type I (MPS 1) Genetics
See Mucopolysaccharidosis Type I (GeneReviews) for more details. If both mutations are known, molecular genetic testing of the at-risk fetus can be ...
#20. Human Gene NAGLU (ENST00000225927.7) from ...
Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo ... Pathways, Other Names, GeneReviews, Methods ...
#21. Human Disease Model Report: mucopolysaccharidosis type IIIA
This report describes mucopolysaccharidosis type IIIA (MPS3A), which is a subtype of mucopolysaccharidoses; MPS3A exhibits autosomal recessive inheritance.
#22. Mucopolysaccharidosis Type-I | Newborn Screening
References & Sources. Visit GeneReviews for more information on mucopolysaccharidosis type I. Visit MedlinePlus Genetics for ...
#23. References - The Pan African Medical Journal
Mucopolysaccharidosis type I. In: GeneReviews®. ... Carpal tunnel syndrome in Mucopolysaccharidoses: a report of four cases in child.
#24. Mucopolysaccharidosis Type I - Apache Tika Corpora
Table 1 summarizes molecular genetic testing for this disorder. Page 3. GeneReviews: Mucopolysaccharidosis Type I. GeneReviews. GeneReviews.
#25. Alpha-Iduronidase Enzyme Activity - ARUP Lab Test Directory
Alpha-Iduronidase Enzyme Activity - Mucopolysaccharidosis Type I. Tests to Consider ... GeneReviews, University of Washington, Seattle; 1993-2022.
#26. IDS Factsheet - Centogene
Mucopolysaccharidosis type II (also known as Hunter syndrome) is caused by mutations in the ... MPS II mainly affects males; however, heterozygous females.
#27. Hurler syndrome (Mucopolysaccharidosis type I-H)
A series of studies across 3 years for this young child with mucopolysaccharidosis (MPS) type I-H, Hurler syndrome.
#28. Variants studied for Mucopolysaccharidosis type 1
GeneReviews · 1, 0, 0, 0, 0, 0, 17 · 18 · Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova · 1 ...
#29. OVERVIEW OF MPS I
2005;94(7):872-877. 3. Clarke LA. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet].
#30. Genotype‐phenotype relationships in mucopolysaccharidosis ...
Abstract Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the ...
#31. Mucopolysaccharidosis Type 1 - Trait Document | My46
Mucopolysaccharidosis Type I. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle ...
#32. MPS VII - National MPS Society
MPS VII is a mucopolysaccharide disease also known as Sly syndrome. · Mucopolysaccharides are chains of sugar molecules used to build connective tissues in the ...
#33. Hand and other bone deformities in MPS 手和其他骨骼異常
Munns C and Glass I. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ Seattle (WA): University of Washington, Seattle; 1993–2008.
#34. Test ID: I2SW Iduronate-2-Sulfatase, Blood
Diagnosis of mucopolysaccharidosis II (MPS II, Hunter syndrome) in whole blood specimens ... GeneReviews [Internet]. University of Washington, Seattle; ...
#35. Mucopolysaccharidosis, Type Vi (MPS6) - MalaCards
MalaCards integrated aliases for Mucopolysaccharidosis, Type Vi: ... Mucopolysaccharidosis Type 6: Autosomal recessive ... 24 GeneReviews. 25 GenomeRNAi.
#36. Elaprase - Drug Therapy Guidelines
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a X-linked lysosomal storage ... GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1274/ (Accessed.
#37. Mucopolysaccharidosis Type I | Encyclopedia MDPI
Other Names for This Condition. Hurler syndrome; Hurler-Scheie syndrome; IDUA deficiency; MPS I; MPS I H; MPS I H-S; MPS I S; mucopolysaccharidosis ...
#38. Mukopolysackaridos typ IV - Socialstyrelsen
Mukopolysackaridos typ IV (MPS IV), även känd som Morquios sjukdom, är en ärftlig sjukdom som ... GeneReviews (University of Washington)
#39. Mucopolysaccharidosis Type I via the IDUA Gene Test
The mucopolysaccharidoses (MPS) are a group of inherited disorders caused by defects in lysosomal enzymes responsible for the stepwise degradation of ...
#40. Experience of enzyme replacement therapy for attenuated ...
Mucopolysaccharidosis Type I. In: Adam MP, Ardinger HH, Pagon RA editors. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993- ...
#41. Case report Dysostosis in mucopolysaccharidosis type 2
Mucopolysaccharidosis type II. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., eds. GeneReviews(®) ...
#42. Mucopolysaccharidosis Type I Newborn Screening
Mucopolysaccharidosis type 1 (MPS I) results from deficiency of the ... in: Pagon R.A. Adam M.P. Ardinger H.H. Gene reviews [Internet].
#43. Mucopolysaccharidosis type IVB - ThinkGenetic
Carriers of an altered [i]GBL1 [/i]gene that causes mucopolysaccharidosis (MPS) IVB do not develop symptoms of the disorder. ... GeneReviews website.
#44. non-lipid disorders - BIR Publications
... or organ dysfunction, with descriptions of the mucopolysaccharidoses, mucolipidoses, alpha-mannosidosis, glycogen storage disorder II and cystinosis.
#45. Hunter's syndrome | disease - Encyclopedia Britannica
Hunter's syndrome, also called Mucopolysaccharidosis Ii, rare sex-linked hereditary disorder that varies widely in its severity but is generally ...
#46. Mucopolysaccharidosis type II (MPS II) – Medicines review ...
The draft ToR for the review of LSDP medicine for MPS II disease were open to ... In GeneReviews((R)), Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, ...
#47. Metachromatic Leukodystrophy: Diagnosis, Modeling, and ...
GeneReviews ((R)). ... Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ...
#48. Rare Disease Highlight: Mucopolysaccharidosis type I - MassBio
Mucopolysaccharidosis type I (MPS I) is a rare and hereditary metabolic ... H. H. Ardinger, & R. A. Pagon (Eds.), GeneReviews [Internet].
#49. The clinical, biochemical and genetic features associated with ...
RRM2B-related mitochondrial disease. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle, WA: University of Washington.
#50. Test Definition: IDUAW - Mayo Clinic Laboratories
Diagnosis of mucopolysaccharidosis I, Hurler, Scheie, and Hurler-Scheie syndromes in leukocytes ... GeneReviews [Internet].
#51. Evolution of a patient with type II mucopolysaccharidosis who ...
Scarpa M. Mucopolysaccharidosis type II. 2007 Nov 6 [Updated 2018 Oct 4]. In: Adam MP, Ardinger HH, Pagon RA et al., editors. GeneReviews® [Internet].
#52. Medical Genetics Test Services - Baylor College of Medicine
Maple Syrup Urine Disease (4 gene panel by NGS) · GeneReview · Maple Syrup Urine Disease Type 1A (BCKDHA) · OMIM ... Mucopolysaccharidosis Type IVA · OMIM ...
#53. Refsum Disease - GeneReviews® - NCBI Bookshelf - CORE
At present, the potential of enzyme replacement therapy (ERT) similar to that for lysosomal storage diseases (e.g.,. Hurler syndrome [see MPS I] ...
#54. Louisiana Medicaid Enzyme Replacement Therapy (ERT) For ...
clinical authorization for the following enzyme replacement therapy (ERT) agents used for the treatment of mucopolysaccharidosis (MPS).
#55. Anesthetic Management in Mucopolysaccharidoses - Hindawi
Various attempts to produce guidelines have been made for MPS. ... L. A. Clarke and J. Heppner, Mucopolysaccharidosis Type I, GeneReviews, 2002.
#56. IDS Gene Analysis in Mucopolysaccharidosis Type II (MPS II)
Mucopolysaccharidosis Type II (MPS II) or Hunter syndrome is an X-linked lysosomal storage ... In: GeneReviews at GeneTests Medical Genetics Information.
#57. Elaprase® (idursulfase) - Magellan Rx
Mucopolysaccharidosis Type II. GeneReviews®. www.ncbi.nlm.nih.gov/books/NBK1274/. Initial Posting: November 6, 2007; Last Update ...
#58. Growth Hormone Therapy in Children with Prader-Willi ...
Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Prader-Willi Syndrome [Internet]. Seattle (WA): GeneReviews®; c1998 [cited 2021 Feb 20]. Available from: https ...
#59. Mucopolysaccharidosis Type II: One Hundred Years of ... - MDPI
Abstract: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was ... H.C., Smith, R.J.H., et al., Eds.; GeneReviews; University of.
#60. Hunter Syndrome (Mucopolysaccharidosis II): Diagnosis ...
Mucopolysaccharidosis type II. In: Pagon RA, Adam MP, Ardinger HH et al, eds. GeneReviews. Seattle, WA: University of Washington; 2007. http:// ...
#61. Aldurazyme® (laronidase) (Intravenous)
Patient has a definitive diagnosis of MPS I confirmed by one of the following: ... 2. Clark LA. Mucopolysaccharidosis Type I. GeneReviews®.
#62. Pediatric Radiology Casebase - Thieme Connect
MPS I or Hurler syndrome (dysostosis multiplex) is the most ... Clarke LA, Heppner J. Mucopolysaccharidosis type I. Gene Reviews. October. 31, 2002.
#63. Index of Genes(386) - GTRx
GALNS [Mucopolysaccharidosis IVA] · GALT [GALACTOSEMIA I] · GAMT [CEREBRAL CREATINE DEFICIENCY SYNDROME 2] · GATA1 [ANEMIA, X-LINKED, WITH OR WITHOUT ...
#64. Hurler-Scheie Syndrome (MPS I)
Hurler-Scheie Syndrome (MPS I) ... Source/Author: The National MPS Society Support Group ... MD and Jonathan Heppner, PhD candidate; Gene Reviews
#65. NAGLU Gene - GeneCards | ANAG Protein | ANAG Antibody
Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is ...
#66. mucopolysaccharidosis type 3A Disease External Resources
An Online Catalog of Human Genes and Genetic Disorders. OMIM: Gene. Gene Reviews. An international point-of-care resource for busy ...
#67. Maternal mosaicism for IDUA deletion clarifies recurrence risk ...
Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. ... GeneReviews [Internet].
#68. Mucopolysaccharide Storage Disease Type I - YouTube
What is mucopolysaccharidosis type I? Mucopolysaccharidosis type I, or MPS I, is a rare genetic metabolic disorder caused by deficiency of a ...
#69. Мукополисахаридоз III типа: обзор литературы и ...
Mucopolysaccharidosis Type III. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Gripp K.W. Amemiya A. (eds.). GeneReviews® ...
#70. Mucopolysaccharidosis NGS Panel - Fulgent Genetics
Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders that inhibit the body's ability to break down glycosaminoglycans (GAGs), long, ...
#71. Mucopolysaccharidosis I, II, and VI: brief review and ... - SciELO
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) ...
#72. Mucopolysaccharidosis type I - SmartEngage - An error has occurred
Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; Severe MPS I; Attenuated MPS I; MPS I H; MPS I S; Hurler syndrome; Scheie syndrome; ...
#73. Hunter Syndrome: Causes, Symptoms, Diagnosis, Treatment ...
Hunter syndrome is one of a group of diseases called mucopolysaccharidoses. It is also known as mucopolysaccharidosis type II, or MPS II.
#74. (PDF) Mucopolysaccharidosis Type I: A Review of the Natural ...
PDF | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme ...
#75. Encyclopedia of Human Genetics and Disease [2 volumes]
Mutations in the IDUA gene, or “iduronidase, Alpha-L” gene, cause MPS. ... “Mucopolysaccharidosis.” GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1162.
#76. Pediatric Neurology: Clinical Assessment and Management
Clarke LA. Mucopolysaccharidosis type I. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. University of Washington. Published October 31, 2002.
#77. Fenichel's Clinical Pediatric Neurology E-Book: A Signs and ...
Last updated August 25. 56. Scarpa M. Mucopolysaccharidosis type II. In: Pagon RA, Bird TD, Dolan CR, et al. GeneReviews. University of Washington: Seattle; ...
#78. Anderson’s Pediatric Cardiology E-Book - 第 1114 頁 - Google 圖書結果
33. Clarke LA. Mucopolysaccharidosis type I. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle (WA): University of Washington, Seattle; ...
#79. The Pediatric and Adolescent Hip: Essentials and Evidence
Hip morphology in MPS-1H patients: an MRI-based study. ... Scarpa M. Mucopolysaccharidosis type II. ... Seattle, WA: GeneReviews; 2007. p. 1–20.
mucopolysaccharidosis genereviews 在 Mucopolysaccharide Storage Disease Type I - YouTube 的推薦與評價
What is mucopolysaccharidosis type I? Mucopolysaccharidosis type I, or MPS I, is a rare genetic metabolic disorder caused by deficiency of a ... ... <看更多>