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1976 1
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1990 2
1991 1
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63 results

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Page 1
Disorders of glycoprotein degradation.
Cantz M, Ulrich-Bott B. Cantz M, et al. J Inherit Metab Dis. 1990;13(4):523-37. doi: 10.1007/BF01799510. J Inherit Metab Dis. 1990. PMID: 2122119 Review.
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficiency (Schindler dis …
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialido …
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC. Naumchik BM, et al. Cells. 2020 Jun 5;9(6):1411. doi: 10.3390/cells9061411. Cells. 2020. PMID: 32517081 Free PMC article. Review.
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by specific lys …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosi …
Gene mapping and chromosome 19.
Shaw DJ, Brook JD, Meredith AL, Harley HG, Sarfarazi M, Harper PS. Shaw DJ, et al. J Med Genet. 1986 Feb;23(1):2-10. doi: 10.1136/jmg.23.1.2. J Med Genet. 1986. PMID: 3081724 Free PMC article. Review.
Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.
Santoro L, Cefalo G, Canalini F, Rossi S, Scarpa M. Santoro L, et al. Mol Genet Metab. 2024 May;142(1):108444. doi: 10.1016/j.ymgme.2024.108444. Epub 2024 Mar 14. Mol Genet Metab. 2024. PMID: 38555683 Free article. Review.
Alpha-mannosidosis is an ultra-rare lysosomal disease that is caused by variants of the MAN2B1 gene on chromosome 19p13. ...Treatment of alpha-mannosidosis was previously limited to hematopoietic stem cell transplantation, but outcomes are variable and not all patie …
Alpha-mannosidosis is an ultra-rare lysosomal disease that is caused by variants of the MAN2B1 gene on chromosome 19p13. ...Treatment …
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A. Michalski JC, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. Biochim Biophys Acta. 1999. PMID: 10571005 Free article. Review.
This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficie …
This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycopr …
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.
Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR. Parker EI, et al. Br J Radiol. 2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14. Br J Radiol. 2014. PMID: 24234586 Free PMC article. Review.
Disorders are stratified based on the type of excess material causing tissue or organ dysfunction, with descriptions of the mucopolysaccharidoses, mucolipidoses, alpha-mannosidosis, glycogen storage disorder II and cystinosis. In addition, similarities and differences in r …
Disorders are stratified based on the type of excess material causing tissue or organ dysfunction, with descriptions of the mucopolysacchari …
The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.
Malm D, Riise Stensland HM, Edvardsen Ø, Nilssen Ø. Malm D, et al. J Inherit Metab Dis. 2014 Jan;37(1):79-82. doi: 10.1007/s10545-013-9622-2. Epub 2013 Jun 6. J Inherit Metab Dis. 2014. PMID: 23739775
Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on a very limited number of observations. In order to assess the disease presentation in detail and to study disease characteristics, a study …
Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on …
Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
Abdul Ghani S, Burney S, Ul Hussain H, Abdul Wahid M, Mumtaz H. Abdul Ghani S, et al. Int J Surg. 2023 Sep 1;109(9):2882-2885. doi: 10.1097/JS9.0000000000000528. Int J Surg. 2023. PMID: 37352513 Free PMC article.
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-mannosidase. ...
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-mannosida …
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
Safka Brozkova D, Varga L, Uhrova Meszarosova A, Slobodova Z, Skopkova M, Soltysova A, Ficek A, Jencik J, Lastuvkova J, Gasperikova D, Seeman P. Safka Brozkova D, et al. Orphanet J Rare Dis. 2020 Aug 26;15(1):222. doi: 10.1186/s13023-020-01508-3. Orphanet J Rare Dis. 2020. PMID: 32847582 Free PMC article.
Variants in MANBA cause a rare lysosomal storage disorder named beta-mannosidosis whose clinical manifestation includes deafness and mental retardation. Since 1986, only 23 patients with beta-mannosidosis and biallelic MANBA variants have been described worldwide. . …
Variants in MANBA cause a rare lysosomal storage disorder named beta-mannosidosis whose clinical manifestation includes deafness and …
Audiological and radiological study of eight polish patients with alpha-mannosidosis.
Iwanicka-Pronicka K, Guzek A, Sarnecki J, Tylki-Szymańska A. Iwanicka-Pronicka K, et al. Int J Pediatr Otorhinolaryngol. 2023 Jun;169:111556. doi: 10.1016/j.ijporl.2023.111556. Epub 2023 Apr 17. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37099947
Biallelic pathogenic variants cause enzymatic deficiency, which clinically results in alpha-mannosidosis (AM), an autosomal recessively inherited condition. Typical features observed in AM patients include intellectual disability, loss of speech, dysmorphic features, progr …
Biallelic pathogenic variants cause enzymatic deficiency, which clinically results in alpha-mannosidosis (AM), an autosomal recessive …
63 results