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Page 1
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
METHODS: Literature reviewResults:Rareness of diseases is not uniformly defined but in the US an orphan disease is diagnosed if the prevalence is <1:200000, in Europe if <5:10000. ...TMEM240), hereditary spastic paraplegias (e.g UBAP1), lysosomal storage disease …
METHODS: Literature reviewResults:Rareness of diseases is not uniformly defined but in the US an orphan disease is diagnosed if the p …
Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder.
Yilmaz S, Öner P. Yilmaz S, et al. World J Biol Psychiatry. 2023 Feb;24(2):187-194. doi: 10.1080/15622975.2022.2124451. Epub 2022 Sep 27. World J Biol Psychiatry. 2023. PMID: 36102137
The Young Mania Rating Scale was used to measure the severity of the disease. Serum alpha-N-acetylgalactosaminidase concentrations were measured in all blood samples using the human alpha-N-acetylgalactosaminidase ELISA Kit. ...And …
The Young Mania Rating Scale was used to measure the severity of the disease. Serum alpha-N-acetylgalactosaminidase …
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 speci …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, …
Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.
Meshach Paul D, Rajasekaran R. Meshach Paul D, et al. Interdiscip Sci. 2018 Mar;10(1):81-92. doi: 10.1007/s12539-016-0173-8. Epub 2016 May 2. Interdiscip Sci. 2018. PMID: 27138754
Schindler disease is a lysosomal storage disorder caused due to deficiency or defective activity of alpha-N-acetylgalactosaminidase (alpha-NAGA). Mutations in gene encoding alpha-NAGA cause wide range of diseas …
Schindler disease is a lysosomal storage disorder caused due to deficiency or defective activity of alpha-N …
Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I.
Sarbu M, Robu A, Peter-Katalinić J, Zamfir AD. Sarbu M, et al. Carbohydr Res. 2014 Oct 29;398:90-100. doi: 10.1016/j.carres.2014.08.014. Epub 2014 Sep 6. Carbohydr Res. 2014. PMID: 25243357
In this study an integrative mass spectrometry (MS) approach based on fully automated chip-nanoelectrospray quadrupole time-of-flight was optimized and applied for the discovery and structural characterization of O-glycopeptides in a fraction from the urine of a patient diagnosed …
In this study an integrative mass spectrometry (MS) approach based on fully automated chip-nanoelectrospray quadrupole time-of-flight was op …
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR. Mohamed FE, et al. J Mol Neurosci. 2020 Jan;70(1):45-55. doi: 10.1007/s12031-019-01398-6. Epub 2019 Aug 29. J Mol Neurosci. 2020. PMID: 31468281
Schindler disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N-acetylgalactosaminidase (alpha-NAGA) activity due to defects in the NAGA gene. ...Both the proband and his s …
Schindler disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N …
Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.
Sarbu M, Zhu F, Peter-Katalinić J, Clemmer DE, Zamfir AD. Sarbu M, et al. Rapid Commun Mass Spectrom. 2015 Nov 15;29(21):1929-37. doi: 10.1002/rcm.7288. Rapid Commun Mass Spectrom. 2015. PMID: 26443390
RATIONALE: Schindler disease is caused by the deficient activity of alpha-N-acetylgalactosaminidase, which leads to an abnormal accumulation of O-glycopeptides in tissues and body fluids. ...The structural analysis by CID MS/MS in combination wi …
RATIONALE: Schindler disease is caused by the deficient activity of alpha-N-acetylgalactosaminidase, whic …
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.
Piraud M, Pettazzoni M, Menegaut L, Caillaud C, Nadjar Y, Vianey-Saban C, Froissart R. Piraud M, et al. Rapid Commun Mass Spectrom. 2017 Jun 15;31(11):951-963. doi: 10.1002/rcm.7860. Rapid Commun Mass Spectrom. 2017. PMID: 28370531
In urine, it allows not only the identification of all the oligosaccharidoses previously identified by TLC (fucosidosis, alphamannosidosis, aspartylglucosaminuria, GM1 gangliosidosis, sialidosis, galactosialidosis and Schindler disease), but also extends the field o …
In urine, it allows not only the identification of all the oligosaccharidoses previously identified by TLC (fucosidosis, alphamannosidosis, …
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R. Casado M, et al. Anal Bioanal Chem. 2014 Jul;406(18):4337-43. doi: 10.1007/s00216-014-7832-6. Epub 2014 May 2. Anal Bioanal Chem. 2014. PMID: 24788891
Abnormal peaks with slower migration times than the tetrasaccharide position were observed for fucosidosis, alpha-mannosidosis, GM1 gangliosidosis, GM2 gangliosidosis variant 0, Pompe disease, and glycogen storage disease type 3. ...In all of the cases, the u …
Abnormal peaks with slower migration times than the tetrasaccharide position were observed for fucosidosis, alpha-mannosidosis, GM1 g …
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG. Hagemeijer MC, et al. J Inherit Metab Dis. 2023 Mar;46(2):206-219. doi: 10.1002/jimd.12597. Epub 2023 Feb 28. J Inherit Metab Dis. 2023. PMID: 36752951
This pipeline generates comprehensive biomarker profiles and allows for extensive quality control (QC) monitoring. Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase deficiency, s …
This pipeline generates comprehensive biomarker profiles and allows for extensive quality control (QC) monitoring. Using this platform, we w …