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Clinical manifestation of Hurler syndrome in a 7 year old child.

Contemporary clinical dentistry

Sharma S, Sabharwal JR, Datta P, Sood S.
PMID: 22557905
Contemp Clin Dent. 2012 Jan;3(1):86-9. doi: 10.4103/0976-237X.94554.

Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of...

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Sharma S, Sabharwal JR, Datta P, et al. Clinical manifestation of Hurler syndrome in a 7 year old child. Contemp Clin Dent. 2012;3(1):86-9doi: 10.4103/0976-237X.94554.
Sharma, S., Sabharwal, J. R., Datta, P., & Sood, S. (2012). Clinical manifestation of Hurler syndrome in a 7 year old child. Contemporary clinical dentistry, 3(1), 86-9. https://doi.org/10.4103/0976-237X.94554
Sharma, S, et al. "Clinical manifestation of Hurler syndrome in a 7 year old child." Contemporary clinical dentistry vol. 3,1 (2012): 86-9. doi: https://doi.org/10.4103/0976-237X.94554
Sharma S, Sabharwal JR, Datta P, Sood S. Clinical manifestation of Hurler syndrome in a 7 year old child. Contemp Clin Dent. 2012 Jan;3(1):86-9. doi: 10.4103/0976-237X.94554. PMID: 22557905; PMCID: PMC3341767.
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Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry.

Molecular genetics and metabolism reports

Oestreich AK, Garcia MR, Yao X, Pfeiffer FM, Nobakhti S, Shefelbine SJ, Wang Y, Brodeur AC, Phillips CL.
PMID: 28649535
Mol Genet Metab Rep. 2015 Sep 07;5:3-11. doi: 10.1016/j.ymgmr.2015.08.004. eCollection 2015 Dec.

Mucopolysaccharidosis type I (MPS I), is an autosomal recessive lysosomal storage disorder caused by a deficiency in the α-L-iduronidase enzyme, resulting in decreased enzymatic activity and accumulation of glycosaminoglycans. The disorder phenotypically manifests with increased urine glycosaminoglycan excretion, facial...

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Oestreich AK, Garcia MR, Yao X, et al. Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry. Mol Genet Metab Rep. 2015;5:3-11doi: 10.1016/j.ymgmr.2015.08.004.
Oestreich, A. K., Garcia, M. R., Yao, X., Pfeiffer, F. M., Nobakhti, S., Shefelbine, S. J., Wang, Y., Brodeur, A. C., & Phillips, C. L. (2015). Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry. Molecular genetics and metabolism reports, 53-11. https://doi.org/10.1016/j.ymgmr.2015.08.004
Oestreich, Arin K, et al. "Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry." Molecular genetics and metabolism reports vol. 5 (2015): 3-11. doi: https://doi.org/10.1016/j.ymgmr.2015.08.004
Oestreich AK, Garcia MR, Yao X, Pfeiffer FM, Nobakhti S, Shefelbine SJ, Wang Y, Brodeur AC, Phillips CL. Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry. Mol Genet Metab Rep. 2015 Sep 07;5:3-11. doi: 10.1016/j.ymgmr.2015.08.004. eCollection 2015 Dec. PMID: 28649535; PMCID: PMC5471398.
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Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory.

Animals : an open access journal from MDPI

Provoost L, Siracusa C, Stefanovski D, Che Y, Li M, Casal M.
PMID: 32121123
Animals (Basel). 2020 Feb 28;10(3). doi: 10.3390/ani10030397.

Mucopolysaccharidosis I (MPS I) results from a deficiency of a lysosomal enzyme, alpha-L-iduronidase (IDUA). IDUA deficiency leads to glycosaminoglycan (GAG) accumulation resulting in cellular degeneration and multi-organ dysfunction. The primary aims of this pilot study were to determine the...

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Provoost L, Siracusa C, Stefanovski D, et al. Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory. Animals (Basel). 2020;10(3)doi: 10.3390/ani10030397.
Provoost, L., Siracusa, C., Stefanovski, D., Che, Y., Li, M., & Casal, M. (2020). Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory. Animals : an open access journal from MDPI, 10(3), . https://doi.org/10.3390/ani10030397
Provoost, Lena, et al. "Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory." Animals : an open access journal from MDPI vol. 10,3 (2020). doi: https://doi.org/10.3390/ani10030397
Provoost L, Siracusa C, Stefanovski D, Che Y, Li M, Casal M. Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory. Animals (Basel). 2020 Feb 28;10(3). doi: 10.3390/ani10030397. PMID: 32121123; PMCID: PMC7143070.
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Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders.

ACS central science

Skrinjar P, Schwarz M, Lexmüller S, Mechtler TP, Zeyda M, Greber-Platzer S, Trometer J, Kasper DC, Mikula H.
PMID: 30648152
ACS Cent Sci. 2018 Dec 26;4(12):1688-1696. doi: 10.1021/acscentsci.8b00668. Epub 2018 Dec 06.

Synthetic substrates play a pivotal role in the development of enzyme assays for medical diagnostics. However, the preparation of these chemical tools often requires multistep synthetic procedures complicating structural optimization and limiting versatility. In particular, substrates for enzyme assays...

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Skrinjar P, Schwarz M, Lexmüller S, et al. Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders. ACS Cent Sci. 2018;4(12):1688-1696doi: 10.1021/acscentsci.8b00668.
Skrinjar, P., Schwarz, M., Lexmüller, S., Mechtler, T. P., Zeyda, M., Greber-Platzer, S., Trometer, J., Kasper, D. C., & Mikula, H. (2018). Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders. ACS central science, 4(12), 1688-1696. https://doi.org/10.1021/acscentsci.8b00668
Skrinjar, Philipp, et al. "Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders." ACS central science vol. 4,12 (2018): 1688-1696. doi: https://doi.org/10.1021/acscentsci.8b00668
Skrinjar P, Schwarz M, Lexmüller S, Mechtler TP, Zeyda M, Greber-Platzer S, Trometer J, Kasper DC, Mikula H. Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders. ACS Cent Sci. 2018 Dec 26;4(12):1688-1696. doi: 10.1021/acscentsci.8b00668. Epub 2018 Dec 06. PMID: 30648152; PMCID: PMC6311692.
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Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes.

Current gene therapy

Fraga M, Schuh RS, Poletto É, de Carvalho TG, França RT, Pinheiro CV, Baldo G, Giugliani R, Teixeira HF, Matte U.
PMID: 33573568
Curr Gene Ther. 2021 Jan 26; doi: 10.2174/1566523221666210126151420. Epub 2021 Jan 26.

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an inherited disorder caused by α-L-iduronidase (IDUA) deficiency. The available treatments are not effective in improving all signs and symptoms of the disease.OBJECTIVE: In the present study, we evaluated the transfection efficiency...

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Fraga M, Schuh RS, Poletto É, et al. Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes. Curr Gene Ther. 2021;doi: 10.2174/1566523221666210126151420.
Fraga, M., Schuh, R. S., Poletto, �. �., de Carvalho, T. G., França, R. T., Pinheiro, C. V., Baldo, G., Giugliani, R., Teixeira, H. F., & Matte, U. (2021). Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes. Current gene therapy, . https://doi.org/10.2174/1566523221666210126151420
Fraga, Michelle, et al. "Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes." Current gene therapy vol. (2021). doi: https://doi.org/10.2174/1566523221666210126151420
Fraga M, Schuh RS, Poletto É, de Carvalho TG, França RT, Pinheiro CV, Baldo G, Giugliani R, Teixeira HF, Matte U. Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes. Curr Gene Ther. 2021 Jan 26; doi: 10.2174/1566523221666210126151420. Epub 2021 Jan 26. PMID: 33573568.
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Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome.

Frontiers in neurology

Haseloff RF, Trudel S, Birke R, Schümann M, Krause E, Gomila C, Heard JM, Blasig IE, Ausseil J.
PMID: 34054689
Front Neurol. 2021 May 13;12:640547. doi: 10.3389/fneur.2021.640547. eCollection 2021.

Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydroxylase alpha-l-iduronidase (IDUA). The resulting accumulation of dermatan and heparan sulfate induces intellectual disabilities and pre-mature death, and only a few treatment options are available. In...

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Haseloff RF, Trudel S, Birke R, et al. Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome. Front Neurol. 2021;12:640547doi: 10.3389/fneur.2021.640547.
Haseloff, R. F., Trudel, S., Birke, R., Schümann, M., Krause, E., Gomila, C., Heard, J. M., Blasig, I. E., & Ausseil, J. (2021). Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome. Frontiers in neurology, 12640547. https://doi.org/10.3389/fneur.2021.640547
Haseloff, Reiner F, et al. "Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome." Frontiers in neurology vol. 12 (2021): 640547. doi: https://doi.org/10.3389/fneur.2021.640547
Haseloff RF, Trudel S, Birke R, Schümann M, Krause E, Gomila C, Heard JM, Blasig IE, Ausseil J. Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome. Front Neurol. 2021 May 13;12:640547. doi: 10.3389/fneur.2021.640547. eCollection 2021. PMID: 34054689; PMCID: PMC8155356.
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Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.

Diagnostics (Basel, Switzerland)

Arunkumar N, Vu DC, Khan S, Kobayashi H, Ngoc Can TB, Oguni T, Watanabe J, Tanaka M, Yamaguchi S, Taketani T, Ago Y, Ohnishi H, Saikia S, Álvarez JV, Tomatsu S.
PMID: 34441282
Diagnostics (Basel). 2021 Jul 27;11(8). doi: 10.3390/diagnostics11081347.

Mucopolysaccharidoses (MPS) and mucolipidosis (ML II/III) are a group of lysosomal storage disorders (LSDs) that occur due to a dysfunction of the lysosomal hydrolases responsible for the catabolism of glycosaminoglycans (GAGs). However, ML is caused by a deficiency of...

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Arunkumar N, Vu DC, Khan S, et al. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans. Diagnostics (Basel). 2021;11(8)doi: 10.3390/diagnostics11081347.
Arunkumar, N., Vu, D. C., Khan, S., Kobayashi, H., Ngoc Can, T. B., Oguni, T., Watanabe, J., Tanaka, M., Yamaguchi, S., Taketani, T., Ago, Y., Ohnishi, H., Saikia, S., Álvarez, J. V., & Tomatsu, S. (2021). Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans. Diagnostics (Basel, Switzerland), 11(8), . https://doi.org/10.3390/diagnostics11081347
Arunkumar, Nivethitha, et al. "Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans." Diagnostics (Basel, Switzerland) vol. 11,8 (2021). doi: https://doi.org/10.3390/diagnostics11081347
Arunkumar N, Vu DC, Khan S, Kobayashi H, Ngoc Can TB, Oguni T, Watanabe J, Tanaka M, Yamaguchi S, Taketani T, Ago Y, Ohnishi H, Saikia S, Álvarez JV, Tomatsu S. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans. Diagnostics (Basel). 2021 Jul 27;11(8). doi: 10.3390/diagnostics11081347. PMID: 34441282; PMCID: PMC8394749.
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A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.

Journal of pediatric genetics

Kamranjam M, Hosseini SM, Alaei M.
PMID: 31687259
J Pediatr Genet. 2019 Dec;8(4):212-217. doi: 10.1055/s-0039-1685190. Epub 2019 Apr 03.

Mucopolysaccharidosis 1 (MPS1) is a rare inherited lysosomal storage disorder resulting from the absence or reduction of lysosomal alpha-l-iduronidase due to mutations in the

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Kamranjam M, Hosseini SM, Alaei M. A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report. J Pediatr Genet. 2019;8(4):212-217doi: 10.1055/s-0039-1685190.
Kamranjam, M., Hosseini, S. M., & Alaei, M. (2019). A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report. Journal of pediatric genetics, 8(4), 212-217. https://doi.org/10.1055/s-0039-1685190
Kamranjam, Mana, et al. "A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report." Journal of pediatric genetics vol. 8,4 (2019): 212-217. doi: https://doi.org/10.1055/s-0039-1685190
Kamranjam M, Hosseini SM, Alaei M. A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report. J Pediatr Genet. 2019 Dec;8(4):212-217. doi: 10.1055/s-0039-1685190. Epub 2019 Apr 03. PMID: 31687259; PMCID: PMC6824898.
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Mucopolysaccharidosis Type I.

Diagnostics (Basel, Switzerland)

Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Matte UDS, Horovitz DD, Barth AL, Baldo G, Vairo F, Giugliani R.
PMID: 32188113
Diagnostics (Basel). 2020 Mar 16;10(3). doi: 10.3390/diagnostics10030161.

Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is...

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Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Mucopolysaccharidosis Type I. Diagnostics (Basel). 2020;10(3)doi: 10.3390/diagnostics10030161.
Kubaski, F., de Oliveira Poswar, F., Michelin-Tirelli, K., Matte, U. D. S., Horovitz, D. D., Barth, A. L., Baldo, G., Vairo, F., & Giugliani, R. (2020). Mucopolysaccharidosis Type I. Diagnostics (Basel, Switzerland), 10(3), . https://doi.org/10.3390/diagnostics10030161
Kubaski, Francyne, et al. "Mucopolysaccharidosis Type I." Diagnostics (Basel, Switzerland) vol. 10,3 (2020). doi: https://doi.org/10.3390/diagnostics10030161
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Matte UDS, Horovitz DD, Barth AL, Baldo G, Vairo F, Giugliani R. Mucopolysaccharidosis Type I. Diagnostics (Basel). 2020 Mar 16;10(3). doi: 10.3390/diagnostics10030161. PMID: 32188113; PMCID: PMC7151028.
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Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

International journal of neonatal screening

Gragnaniello V, Gueraldi D, Rubert L, Manzoni F, Cazzorla C, Giuliani A, Polo G, Salviati L, Burlina A.
PMID: 33147872
Int J Neonatal Screen. 2020 Nov 02;6(4). doi: 10.3390/ijns6040085.

Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes. We present our first 5 years of experience with...

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Gragnaniello V, Gueraldi D, Rubert L, et al. Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature. Int J Neonatal Screen. 2020;6(4)doi: 10.3390/ijns6040085.
Gragnaniello, V., Gueraldi, D., Rubert, L., Manzoni, F., Cazzorla, C., Giuliani, A., Polo, G., Salviati, L., & Burlina, A. (2020). Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature. International journal of neonatal screening, 6(4), . https://doi.org/10.3390/ijns6040085
Gragnaniello, Vincenza, et al. "Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature." International journal of neonatal screening vol. 6,4 (2020). doi: https://doi.org/10.3390/ijns6040085
Gragnaniello V, Gueraldi D, Rubert L, Manzoni F, Cazzorla C, Giuliani A, Polo G, Salviati L, Burlina A. Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature. Int J Neonatal Screen. 2020 Nov 02;6(4). doi: 10.3390/ijns6040085. PMID: 33147872; PMCID: PMC7712507.
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Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.

International journal of neonatal screening

Herbst ZM, Urdaneta L, Klein T, Fuller M, Gelb MH.
PMID: 33123640
Int J Neonatal Screen. 2020 Aug 26;6(3):69. doi: 10.3390/ijns6030069. eCollection 2020 Sep.

All newborn screening (NBS) for mucopolysaccharidosis-I (MPS-I) is carried out by the measurement of α-iduronidase (IDUA) enzymatic activity in dried blood spots (DBS). The majority of low enzyme results are due to pseudodeficiencies, and studies from the Mayo Clinic...

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Herbst ZM, Urdaneta L, Klein T, et al. Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I. Int J Neonatal Screen. 2020;6(3):69doi: 10.3390/ijns6030069.
Herbst, Z. M., Urdaneta, L., Klein, T., Fuller, M., & Gelb, M. H. (2020). Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I. International journal of neonatal screening, 6(3), 69. https://doi.org/10.3390/ijns6030069
Herbst, Zackary M, et al. "Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I." International journal of neonatal screening vol. 6,3 (2020): 69. doi: https://doi.org/10.3390/ijns6030069
Herbst ZM, Urdaneta L, Klein T, Fuller M, Gelb MH. Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I. Int J Neonatal Screen. 2020 Aug 26;6(3):69. doi: 10.3390/ijns6030069. eCollection 2020 Sep. PMID: 33123640; PMCID: PMC7570209.
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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

International journal of neonatal screening

Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S.
PMID: 33073008
Int J Neonatal Screen. 2020 Feb 07;6(1):10. doi: 10.3390/ijns6010010. eCollection 2020 Mar.

Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS)...

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Peck DS, Lacey JM, White AL, et al. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2020;6(1):10doi: 10.3390/ijns6010010.
Peck, D. S., Lacey, J. M., White, A. L., Pino, G., Studinski, A. L., Fisher, R., Ahmad, A., Spencer, L., Viall, S., Shallow, N., Siemon, A., Hamm, J. A., Murray, B. K., Jones, K. L., Gavrilov, D., Oglesbee, D., Raymond, K., Matern, D., Rinaldo, P., & Tortorelli, S. (2020). Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. International journal of neonatal screening, 6(1), 10. https://doi.org/10.3390/ijns6010010
Peck, Dawn S, et al. "Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I." International journal of neonatal screening vol. 6,1 (2020): 10. doi: https://doi.org/10.3390/ijns6010010
Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2020 Feb 07;6(1):10. doi: 10.3390/ijns6010010. eCollection 2020 Mar. PMID: 33073008; PMCID: PMC7422968.
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