61:
37:
1807:
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1847:
824:
1827:
152:
1817:
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602:
Molho-Pessach, Vered; Bargal, Ruth; Abramowitz, Yigal; Doviner, Victoria; Ingber, Arieh; Raas-Rothschild, Annick; Ne'eman, Zvi; Zeigler, Marsha; Zlotogorski, Abraham (2007). "Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation".
730:
715:
188:. Because of its rarity, and non-specific clinical findings, beta-mannosidosis can go undiagnosed until adulthood, where it can present with intellectual disability and behavioral problems, including aggression.
480:
Sedel, F.; Baumann, N.; Turpin, J. -C.; Lyon-Caen, O.; Saudubray, J. -M.; Cohen, D. (2007). "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults".
169:. People have been described with a wide spectrum of clinical presentations, from infants and children with intellectual disability to adults who present with isolated skin findings (
135:
manner. Affected individuals appear normal at birth, and can have a variable clinical presentation. Infantile onset forms show severe neurodegeneration, while some children have
870:
642:"A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype–phenotype correlation"
1871:
1336:
396:
Enns, Gregory M.; Steiner, Robert D.; Cowan, Tina M. (2009). "Lysosomal
Disorders". In Sarafoglou, Kiriakie; Hoffmann, Georg F.; Roth, Karl S. (eds.).
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333:"Mannosidosis, beta A, lysosomal | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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177:
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is a useful screening test, and enzymatic analysis or molecular testing can be used for confirmation.
1770:
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128:
1850:
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60:
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505:
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69:
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87:
49:
1512:
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1374:
1249:
1205:
891:
671:
653:
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489:
310:
263:
258:
A diagnosis of beta-mannosidosis is suspected based on the person's clinical presentation.
201:
123:
118:
54:
1840:
1785:
1646:
1631:
1614:
1554:
1549:
1493:
1471:
1168:
1114:
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114:
36:
829:
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140:
367:
1865:
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1401:
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1015:
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There is currently no treatment available; individuals exhibiting muscle weakness or
239:
155:
1820:
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1745:
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1131:
1077:
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509:
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1316:
1291:
1109:
964:
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220:
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1707:
772:
616:
576:
Rosenberg's
Molecular and Genetic Basis of Neurological and Psychiatric Disease
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988:
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624:
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location of the gene is 4q24; furthermore, the condition is inherited in an
197:
162:
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501:
151:
1286:
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enzyme catalyzing and thus involved in degradation route for N-linked
734:
719:
279:
549:
259:
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249:
150:
400:(1st ed.). New York: McGraw-Hill Medical. pp. 721–755.
74:
Respiratory infections, Hearing loss and
Intellectual disability.
750:
468:
274:
Diagnostic techniques for this condition can be done to offer a
161:
The initial affected individual described in 1986 had a complex
1036:
852:
550:"OMIM Entry - * 609489 - MANNOSIDASE, BETA A, LYSOSOMAL; MANBA"
1032:
176:
Most cases are identified in the first year of life with
165:, and was later found to have both beta-mannosidosis and
230:
Beta-mannosidase function is consistent with it being a
640:
Huynh, T; Khan, JM; Ranganathan, S (30 November 2011).
398:
117:
metabolism caused by decreased activity of the enzyme
697:
578:(Fifth ed.). Academic Press. pp. 369–383.
44:
This condition is autosomal recessive in inheritance
1723:
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1002:
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96:
86:
78:
68:
48:
26:
21:
605:Journal of the American Academy of Dermatology
1048:
864:
204:gene are the cause of beta-mannosidosis. The
8:
1337:Reproductive endocrinology and infertility
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1055:
1041:
1033:
871:
857:
849:
698:
427:Encyclopedia of Human Genetics and Disease
391:
389:
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59:
35:
18:
1678:Bachelor of Medicine, Bachelor of Surgery
675:
657:
219:
121:. This enzyme is coded for by the gene
321:
131:. Beta-mannosidosis is inherited in an
482:Journal of Inherited Metabolic Disease
460:
458:
456:
454:
419:
417:
361:
359:
357:
327:
325:
111:lysosomal beta-mannosidase deficiency
7:
1816:
1577:Physical medicine and rehabilitation
944:Pseudo-Hurler polydystrophy (ML III)
912:Congenital disorder of glycosylation
143:are common features of the disease.
1826:
465:Online Mendelian Inheritance in Man
1713:Medical Scientist Training Program
30:Beta-mannosidase deficiency, MANSB
14:
1872:Glycoprotein metabolism disorders
1845:
1835:
1825:
1815:
1806:
1805:
822:
1846:
922:Post-translational modification
301:are treated based on symptoms.
196:In terms of causation, several
1703:Doctor of Osteopathic Medicine
1137:Oral and maxillofacial surgery
1:
1882:Autosomal recessive disorders
262:testing to identify abnormal
1683:Bachelor of Medical Sciences
1450:Neurosurgical anesthesiology
659:10.1186/1471-2164-12-S3-S22
82:Mutations in the MANBA gene
1898:
907:Dolichol kinase deficiency
880:Lysosomal storage diseases
617:10.1016/j.jaad.2007.01.037
524:Reference, Genetics Home.
366:Reference, Genetics Home.
1801:
574:Johnson, William (2015).
494:10.1007/s10545-007-0661-4
430:. ABC-CLIO. p. 514.
424:Kelly, Evelyn B. (2013).
337:rarediseases.info.nih.gov
285:, to distinguish between
43:
34:
1637:Transplantation medicine
1528:Clinical neurophysiology
1445:Obstetric anesthesiology
1365:Interventional radiology
1125:Digestive system surgery
1508:Intensive care medicine
1482:Mass gathering medicine
1327:Maternal–fetal medicine
888:carbohydrate metabolism
530:Genetics Home Reference
372:Genetics Home Reference
289:and beta-mannosidosis.
186:intellectual disability
137:intellectual disability
1100:Cardiothoracic surgery
960:Aspartylglucosaminuria
939:I-cell disease (ML II)
276:differential diagnosis
270:Differential diagnosis
255:
227:
178:respiratory infections
158:
1751:Personalized medicine
1610:Reproductive medicine
1535:Occupational medicine
1489:Evolutionary medicine
1011:solute carrier family
514:subscription required
253:
223:
154:
1771:Traditional medicine
1731:Alternative medicine
1598:Addiction psychiatry
1412:Transfusion medicine
1407:Medical microbiology
1322:Gynecologic oncology
1174:Reproductive surgery
139:. Hearing loss and
1793:History of medicine
1776:Veterinary medicine
1583:Preventive medicine
1435:Adolescent medicine
1277:Infectious diseases
368:"beta-mannosidosis"
210:autosomal recessive
167:Sanfilippo syndrome
133:autosomal recessive
113:, is a disorder of
1741:Molecular oncology
1698:Doctor of Medicine
1688:Master of Medicine
1605:Radiation oncology
1477:Emergency medicine
1430:Addiction medicine
1397:Clinical chemistry
1392:Clinical pathology
1184:Transplant surgery
1142:Orthopedic surgery
1120:Colorectal surgery
977:Alpha-mannosidosis
783:External resources
287:alpha-mannosidosis
256:
228:
159:
147:Symptoms and signs
1859:
1858:
1693:Master of Surgery
1657:
1656:
1642:Tropical medicine
1588:Prison healthcare
1503:Hospital medicine
1467:Disaster medicine
1457:Aviation medicine
1272:Hospital medicine
1179:Surgical oncology
1164:Pediatric surgery
1158:
1105:Endocrine surgery
1030:
1029:
1022:Galactosialidosis
994:Schindler disease
982:Beta-mannosidosis
927:lysosomal enzymes
840:Beta-mannosidosis
817:
816:
797:beta-mannosidosis
585:978-0-12-410529-4
407:978-0-07-143915-2
107:Beta-mannosidosis
104:
103:
100:Based on symptoms
88:Diagnostic method
22:Beta-mannosidosis
16:Medical condition
1889:
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1513:Medical genetics
1498:General practice
1375:Nuclear medicine
1250:Gastroenterology
1206:Vascular surgery
1156:
1083:
1057:
1050:
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1034:
892:Glycoproteinoses
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866:
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689:
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652:(Suppl 3): S22.
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339:. Archived from
329:
311:Beta-mannosidase
264:oligosaccharides
119:beta-mannosidase
64:
63:
55:Medical genetics
39:
19:
1897:
1896:
1892:
1891:
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1887:
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1861:
1860:
1855:
1797:
1786:Chief physician
1719:
1664:
1653:
1647:Travel medicine
1632:Sports medicine
1615:Sexual medicine
1555:Palliative care
1550:Pain management
1494:Family medicine
1472:Diving medicine
1418:
1346:
1308:
1301:
1217:
1210:
1169:Plastic surgery
1115:General surgery
1095:Cardiac surgery
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596:Further reading
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115:oligosaccharide
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1370:Neuroradiology
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1191:
1189:Trauma surgery
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1152:Otolaryngology
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1078:subspecialties
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702:Classification
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694:External links
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611:(3): 407–412.
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488:(5): 631–641.
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283:histochemistry
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171:angiokeratomas
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141:angiokeratomas
109:, also called
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1877:Rare diseases
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1736:Allied health
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1540:Ophthalmology
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1402:Cytopathology
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1342:Urogynecology
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1245:Endocrinology
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1038:
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1016:Salla disease
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935:Mucolipidosis
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923:
919:
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1462:Dermatology
1317:Gynaecology
1309:gynaecology
1292:Pulmonology
1110:Eye surgery
1072:Specialties
965:Fucosidosis
792:MedlinePlus
443:10 December
206:cytogenetic
27:Other names
1866:Categories
1593:Psychiatry
1579:(PM&R)
1572:Phlebology
1560:Pediatrics
1387:Anatomical
1352:Diagnostic
1332:Obstetrics
1282:Nephrology
1267:Hematology
1262:Geriatrics
1255:Hepatology
1240:Cardiology
1230:Immunology
989:Sialidosis
953:Catabolism
768:DiseasesDB
535:2017-10-25
377:2017-07-13
347:2017-07-13
317:References
254:Urine test
238:moieties (
92:Urine test
1781:Physician
1665:education
1523:Neurology
1518:Narcology
1382:Pathology
1360:Radiology
1235:Angiology
1199:Andrology
900:Anabolism
668:1471-2164
625:1097-6787
293:Treatment
246:Diagnosis
232:lysosomal
216:Mechanism
198:mutations
163:phenotype
97:Treatment
50:Specialty
1811:Category
1287:Oncology
1218:medicine
1216:Internal
1064:Medicine
803:Orphanet
686:22369051
633:17420068
502:17694356
467:(OMIM):
305:See also
299:seizures
212:manner.
70:Symptoms
1851:Outline
1821:Commons
1766:Therapy
1663:Medical
1226:Allergy
1194:Urology
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830:Scholia
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260:Urine
202:MANBA
192:Cause
124:MANBA
757:MeSH
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682:PMID
664:ISSN
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621:ISSN
580:ISBN
561:2018
498:PMID
445:2017
432:ISBN
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184:and
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