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#1. GLB1-Related Disorders - GeneReviews® - NCBI Bookshelf
A hallmark of GM1 gangliosidosis is degeneration of the CNS, where ganglioside synthesis is the highest. An inverse ratio of enzyme activity and ...
#2. GM1 Gangliosidosis—A Mini-Review - Frontiers
GM1 gangliosidosis is a severe LSD underpinned by complex pathophysiological mechanisms. Numerous disease causing GLB1 mutations have been ...
#3. 230500 - GM1-GANGLIOSIDOSIS, TYPE I; GM1G1 - OMIM
GM1 -gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes.
#4. GM1 gangliosidosis - Genetics - MedlinePlus
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
#5. Search a disease - Orphanet
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range ...
#6. The Clinical and Molecular Spectrum of GM1 Gangliosidosis
GM1 gangliosidosis is a rare inborn error of metabolism caused by mutations in the galactosidase beta 1 (GLB1) gene leading to deficiency of the lysosomal ...
#7. Human Gene GLB1 (uc011axk.1) - UCSC Genome Browser
Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. ... GO Annotations, mRNA Descriptions, Pathways, Other Names, GeneReviews.
#8. HEXA Disorders - GeneReviews® - NCBI Bookshelf
GM1 gangliosidosis type II (See GLB1 Disorders.) –, 1-5 yrs, Seizures, Skeletal disease. HEXB, Sandhoff disease, +, 3-5 yrs, Clinical course ...
#9. GLB1-related disorders: GM1 gangliosidosis ... - Korea Science
GeneReviews ®. Seattle: University of Washington, 1993. 12. Roze E, Paschke E, Lopez N, Eck T, Yoshida K, Maurel ...
#10. Gm1 Gangliosidosis disease - MalaCards
Gm1 Gangliosidosis. Categories: Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal ...
#11. GM1 gangliosidosis and mucopolysaccharidosis type IVB
GeneReviews Available at http://www.ncbi.nlm.nih.gov/books/NBK164500/. Accessed January 19, 2016. 2. GLB1 gene. Genetics Home Reference. Available at http://ghr ...
#12. GM1‐gangliosidosis: The caregivers' assessments of ...
Abstract GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of ...
#13. Late-infantile GM1 gangliosidosis: A case report : Medicine
Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, ...
#14. GM1 Gangliosidosis - Hereditary Ocular Diseases
Resources. eMedicine - GM1 Gangliosidosis · NINDS Gangliosidoses Information · Healthline - GM1-Gangliosidosis · GeneReviews - GLB1 Related Disorders ...
#15. Novel Biomarkers of Human GM1 Gangliosidosis Reflect the ...
GM1 gangliosidosis is a fatal neurodegenerative disease that af- fects individuals of all ages. ... GLB1-related disorders. In GeneReviews, R.A..
#16. Single Institutional Experience with GM1 Gangliosidosis
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage ... GLB1-Related Disorders, in GeneReviews(®), M.P. Adam, et al., Editors.
#17. Leukodystrophy - Symptoms, Causes, Treatment | NORD
GM1 gangliosidosis is an autosomal recessive disorder due to deficiency of the lysosomal enzyme ß-galactosidase associated with mutations in ...
#18. GLB1-related disorders: GM1 gangliosidosis and Morquio B ...
GeneReviews ®. Seattle: University of Washington, 1993. Roze E, Paschke E, Lopez N, Eck T, Yoshida K, Maurel-Ollivier A ...
#19. Morquio B patient/caregiver survey: First insight into the ...
Onset beyond infancy is associated with a milder/less rapidly progressive course often referred to as Type II and Type III (juvenile/adult) GM1 gangliosidosis [ ...
#20. Leukodystrophies: a proposed classification system based on ...
Neuropathology of patients with GM1 and GM2 gangliosidoses reveals failed ... GeneReviews is a registered trademark of the University of ...
#21. By the time she diagnosed with GM1 Gangliosidoses ... - CORE
GM1 gangliosidosis is broadly classified under lysosomal storage disorder. It is an inherited autosomal recessive disorder that gradually degenerates nerve ...
#22. Test ID: BGABS Beta-Galactosidase, Blood Spot
Useful For. Diagnosis of beta-galactosidase deficiency (GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis) using blood spot specimens. This test is ...
#23. Case reports of juvenile GM1 gangliosidosisis type II caused ...
Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile ...
#24. Test Definition: BGAW - Mayo Clinic Laboratories
The beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis. Testing Algorithm. See ...
#25. Mucopolysaccharidosis type IVB - ThinkGenetic
References. Regier DS, Tifft CJ. GLB1-Related Disorders. GeneReviews website. ... Are mucopolysaccharidosis IVB and GM1 gangliosidosis the same disorder?
#26. Case Number 2 GM1 Gangliosidosis
Breathing rate of 55 breaths/minute (normally <30), chest wall recessions and respiratory distress. Differential diagnosis: • GM1 Gangliosidoses. • GM 2 ...
#27. GM1神經節苷脂儲積症疾病介紹及衛教 - 慧智基因
疾病簡介. 神經節苷脂儲積症(GM1 gangliosidosis)為一代謝性遺傳疾病，致病原因為第3號染色體上的GLB1基因突變，使得溶小體中β-galactosidase酵素功能 ...
#28. PBGM01 Study in Infantile GM1 Gangliosidosis
2016 GLB-1 Disorders, In Adam MP, et al. GeneReviews. Elevate β-gal activity to preserve neurological function and improve clinical outcomes ...
#29. GM1 gangliosidosis- a mini review - ResearchGate
PDF | GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme.
#30. UpdateTable2017.dystonia.KL_2018_04_25_clean.docx
GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1492/ ... DYT/PARK-GLB1,, GM1 gangliosidosis (type III, chronic/adult form): Dystonia, parkinsonism.
#31. GM1 gangliosidosis type 3 Disease External Resources
An Online Catalog of Human Genes and Genetic Disorders. OMIM: Gene. Gene Reviews. An international point-of-care resource for busy ...
#32. GM1 gangliosidosis types, causes, symptoms, diagnosis ...
The adult GM1 gangliosidosis is characterized by normal early neurologic development, with variable age of clinical presentation. Slowly ...
#33. GLB1 Gene - GeneCards | BGAL Protein | BGAL Antibody
Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015] ...
#34. Spectrum of Lysosomal Storage Disorders at a Medical ...
GM1 gangliosidosis *, 6, 0.64 - 4.2, – ... In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Pagon RA, Bird TD, ...
#35. Human GLB1 knockout cerebral organoids
GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused ... www.ncbi.nlm.nih.gov/books/NBK164500/ GeneReviews® [Internet], in press.
#36. Submissions for variant NM_000404.4(GLB1):c.176G>A (p ...
Submitter RCV SCV Clinical significance Eurofins NTD LLC (GA) RCV000078708 SCV000227115 pathogenic GeneDx RCV000078708 SCV000490538 pathogenic Illumina Laboratory Services,Illumina RCV000778693 SCV000915044 pathogenic
#37. GLB1 (galactosidase beta 1)
Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. 22. 16941474, 2006, Twenty- ...
#38. AXO-AAV-GM1 for GM1 Gangliosidosis - SIO Gene Therapies
GLB1-Related Disorders. 2013 Oct 17 [Updated 2019 Aug 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®.
#39. A Natural History Study of the Gangliosidoses - Clinical Trials
The infantile form of GM2 and GM1 gangliosidosis diseases ("classic" infantile) is the most common. Infants with Tay-Sachs disease, Sandhoff disease or GM1 ...
#40. Rare Disease Highlight: GM1 Gangliosidosis
GM1 -gangliosidosis is a rare disorder passed from parents to children ... and C.E. Rothermel, GLB1-Related Disorders, in GeneReviews(®), ...
#41. A Phenomenology-Based Approach to Inborn Errors of ...
Besides GM1 gangliosidosis, mutations in this gene can cause a phenotypically distinct disorder, mucopolyssacharidosis type IVB (also known as Morquio B disease) ...
#42. Morquio‐like dysostosis multiplex presenting with ... - USP
GM1 -gangliosidosis are caused by variants in GLB1, the ... manifestations, GM1 gangliosidosis is divided into type ... GeneReviews((R)). Seattle,.
#43. Clinical and Laboratory Profile of Gangliosidosis from ...
One child had a rare AB variant of GM2 gangliosidosis. GM2 Gangliosidoses are more common compared with GM1 variety. All of them had infantile onset except one ...
#44. Molecular Genetics and Metabolism Reports - Lume UFRGS
Both brain and urine samples from human GM1 gangliosidosis pa- tients exhibited large increases in steady state levels for the same glycan ...
#45. Whole genome sequencing for the genetic diagnosis of ...
An MRI brain showed changes consistent with. GM1 gangliosidosis (Supplementary Fig. 2). 3.3.4. GNAL mutations. The first individual with GNAL-related dystonia ( ...
#46. Tay Sachs Disease journal articles from PubMed
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff disease, ...
#47. Gene Therapy of Sphingolipid Metabolic Disorders - MDPI
than 10 genetic disorders, including GM1-gangliosidosis, ... In GeneReviews((R)); Adam, M.P., Everman, D.B., Mirzaa, G.M., Pagon, R.A., ...
#48. GeneReviews - Submitter - ClinVar - NCBI
Gene Submissions Last Updated ABCB7 4 Apr 4, 2014 ABCC8 14 Jan 8, 2013 ABCD1 1 Aug 10, 2022
#49. Child Neurology: Exaggerated dermal melanocytosis in a ...
in a Hypotonic Infant: A Harbinger of GM1 Gangliosidosis.” Neurology 83 (17) (October 20): e166– e168. doi:10.1212/wnl.0000000000000912.
#50. Lysosomal Disorders and Mucopolysaccharidosis Panel
GM1 -gangliosidosis, Mucopolysaccharidosis (Morquio syndrome). AR. 90. 220. GLDC. Glycine encephalopathy. AR. 139. 425. GM2A. GM2-gangliosidosis, AB variant.
#51. Carlos Ferreira, M.D.
Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ. The skeletal phenotype of intermediate GM1 gangliosidosis: ...
#52. Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI)
... Sialidosis (Mucolipidosis I) · GM1 Gangliosidosis · Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease). News & Perspective.
#53. 無題
GM1 gangliosidosis. Gene : GLB1. GeneAware Complete; GeneAware ACMG and ACOG; GeneAware Ashkenazi Jewish; GeneAware Basic ...
#54. GM2 gangliosidoses - Wikipedia
The GM2 gangliosidoses are a group of three related genetic disorders that result from a ... GeneReview/NIH/UW entry on Hexosaminidase A Deficiency.
#55. Single Institutional Experience with GM1 Gangliosidosis
Conclusion: Median survival in patients with GM1 gangliosidosis is less than 24 ... GLB1-Related Disorders, in GeneReviews(®), M.P. Adam, et al., Editors.
#56. Morquio-B Disease - ScienceOpen
More than 150 pathogenic GLB1 variants are known with the vast majority being associated with GM1 gangliosidosis,1 whereas the number of variants described in ...
#57. Advances in the Development of Pharmacological ...
GM1 -gangliosidosis (OMIM 230500) and mucopolysaccharidosis type IVB (MPS IVB, ... In GeneReviews; Adam, M.P., Ardinger, H.H., Pagon, R.A.,.
#58. GLB1 - Beta-galactosidase - Homo sapiens (Human) - UniProt
GM1 -gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, ...
#59. N-Substituted l-Iminosugars for the Treatment of Sanfilippo ...
... V. F.; Northrup, H. Mucopolysaccharidosis Type III; GeneReviews, 1993. ... as a Novel Pharmacological Chaperone for GM1 Gangliosidosis.
#60. Gene Therapy of Sphingolipid Metabolic Disorders - X-MOL
than 10 genetic disorders, including GM1-gangliosidosis, ... In GeneReviews((R)); Adam, M.P., Everman, D.B., Mirzaa, G.M., Pagon, R.A., ...
#61. Minimally invasive routes of AAV administration to treat GM1 ...
GM1 gangliosidosis is a lysosomal storage disease caused by a deficiency of lysosomal β-galactosidase (βgal), which results in the accumulation ...
#62. 無題
GeneReviews The dystrophinopathies include a spectrum of muscle disease caused by ... OMIM GM1-Gangliosidosis is an autosomal recessive lysosomal storage ...
#63. Lysosomal storage diseases - IOS Press
GM1 gangliosidosis, Urine oligosaccharides, Leukocyte, DBS or fibroblast ... Gaucher Disease, Niemann-Pick Disease, Gangliosidoses GM1 and.
#64. Gangliosidose GM 1 | Erfelijkheid.nl
Men denkt dat gangliosidosis GM1 bij ongeveer 1 tot 2 op de 200.000 baby's GM1 type 1 heeft. ... expertisecentra en noodprotocollen; GeneReviews ...
#65. Hexosaminidase A Deficiency - WordPress.com
GeneReviews is a registered trademark of the University of ... GM1 gangliosidosis, galactosialidosis, Niemann-Pick disease type A, ...
#66. Genetic Eye Disease Related Terms and Resources - EyeWiki
GeneReviews, Publications consisting of standardized and clinical ... GM1-GANGLIOSIDOSIS, TYPE I, Cherry-red spot, hypertelorism, AR, GLB1, #230500.
#67. Expanded genetic insight and clinical experience of DNMT1 ...
... of a natural history study for pediatric cases with early onset of either GM1 gangliosidosis, GM2 gangliosidosis, ... GeneReviews.
#68. 3-Methylcrotonyl-CoA carboxylase deficiency
GeneReviews web site. http://www.ncbi.nlm.nih.gov/books/ ... Genetics: GM1 gangliosidosis is caused by mutations in the GLB1 gene, which encodes the ...
#69. Assessment of a targeted resequencing assay as a support ...
according to GeneReviews (NCBI) (Table 1) [16]. Design includes all transcripts from each target ... GM1-Gangliosidosis, Type I, II, III.
#70. GM1 Gangliosidosis - Cleveland Clinic
GM1 gangliosidosis is a rare lysosomal storage disorder that occurs in all ages. An inherited gene mutation affects an enzyme that helps ...
#71. Gene Therapy for GM1 Gangliosidosis - YouTube
GM1 gangliosidosis (GM1) is a rare genetic disorder that progressively damages cells primarily in the brain and spinal cord, ...
#72. About GM1 Gangliosidosis - Cure GM1 Foundation
GM1 Gangliosidosis (GM1) is a rare inherited genetic disorder that primarily affects children. It has many debilitating ramifications, some of which are ...
#73. Genetic Testing - GM1 gangliosidosis, types I, II and III ... - IVAMI
GM1 Gangliosidosis is an inherited disorder that progressively destroys neurons in the brain and spinal cord. Sometimes this disease is classified into ...
#74. Parkinson's Disease: Molecular Mechanisms Underlying Pathology
Designation and referencea GeneReviews and OMIM reference Clinical clues ... None DYT/PARK- GLB1 GeneReviews: n/a OMIM 603921 GM1 gangliosidosis (type III, ...
#75. Health Care for People with Intellectual and Developmental ...
Source GeneReviews® [Internet]. ... Infantile form GM1 gangliosidosis with dilated cardiomyopathy: a case report. Acta Paediatr. 2000;89(7):880–3.
#76. Imaging of White Matter, An Issue of Radiologic Clinics of ...
Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, ... GeneReviews 1993. 2013. ... Neuroimaging findings in infantile GM1 gangliosidosis.
#77. Genetic Disorders and the Fetus: Diagnosis, Prevention and ...
In: Pagon RA, GeneReviews Adam® . ... GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
gm1 gangliosidosis genereviews 在 Gene Therapy for GM1 Gangliosidosis - YouTube 的推薦與評價
GM1 gangliosidosis (GM1) is a rare genetic disorder that progressively damages cells primarily in the brain and spinal cord, ... ... <看更多>