Publications:

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Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.

Diseases (Basel, Switzerland)

Asseri, Ali Alsuheel AA; Alzoani, Ahmad A; Almazkary, Abdulwahab M AM; Abdulaziz, Nisreen N; Almazkary, Mufareh H MH; Alahmari, Samy Ailan SA; Duraisamy, Arul J AJ; Sureshkumar, Shruti S

Publication Date: 2023-04-28

Variant appearance in text: IDUA: P533R

PubMed Link: 37218880

Variant Present in the following documents:

• Main text
• diseases-11-00067.pdf

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Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

Children (Basel, Switzerland)

Cantú-Reyna, Consuelo C; Vazquez-Cantu, Diana Laura DL; Cruz-Camino, Héctor H; Narváez-Díaz, Yuriria Arlette YA; Flores-Caloca, Óscar Ó; González-Llano, Óscar Ó; Araiza-Lozano, Carolina C; Gómez-Gutiérrez, René R

Publication Date: 2023-03-30

Variant appearance in text: IDUA: 1598C>G; Pro533Arg

PubMed Link: 37189891

Variant Present in the following documents:

• children-10-00642.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: IDUA: 1598C>G; Pro533Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.

Bone Marrow Transplantation

Gardin, Antoine A; Castelle, Martin M; Pichard, Samia S; Cano, Aline A; Chabrol, Brigitte B; Piarroux, Julie J; Roubertie, Agathe A; Nadjar, Yann Y; Guemann, Anne-Sophie AS; Tardieu, Marine M; Lacombe, Didier D; Robert, Matthieu P MP; Caillaud, Catherine C; Froissart, Roseline R; Leboeuf, Virginie V; Barbier, Valérie V; Bouchereau, Juliette J; Schiff, Manuel M; Fauroux, Brigitte B; Thierry, Briac B; Luscan, Romain R; James, Syril S; de Saint-Denis, Timothée T; Pannier, Stéphanie S; Gitiaux, Cyril C; Vergnaud, Estelle E; Boddaert, Nathalie N; Lascourreges, Claire C; Lemoine, Michel M; Bonnet, Damien D; Blanche, Stéphane S; Dalle, Jean-Hugues JH; Neven, Bénédicte B; de Lonlay, Pascale P; Brassier, Anaïs A

Publication Date: 2022-12-09

Variant appearance in text: IDUA: Pro533Arg

PubMed Link: 36494569

Variant Present in the following documents:

• Main text
• 41409_2022_Article_1886.pdf

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Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.

Genes

Pillai, Nishitha R NR; Ahmed, Alia A; Vanyo, Todd T; Whitley, Chester B CB

Publication Date: 2022-07-22

Variant appearance in text: IDUA: P533R

PubMed Link: 35893030

Variant Present in the following documents:

• genes-13-01293.pdf

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Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts.

Glycobiology

Maccarana, Marco M; Tykesson, Emil E; Pera, Edgar M EM; Gouignard, Nadège N; Fang, Jianping J; Malmström, Anders A; Ghiselli, Giancarlo G; Li, Jin-Ping JP

Publication Date: 2021-11-18

Variant appearance in text: IDUA: P533R

PubMed Link: 34192316

Variant Present in the following documents:

• Main text
• cwab066.pdf

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Epidemiology of Mucopolysaccharidoses Update.

Diagnostics (Basel, Switzerland)

Çelik, Betul B; Tomatsu, Saori C SC; Tomatsu, Shunji S; Khan, Shaukat A SA

Publication Date: 2021-02-10

Variant appearance in text: IDUA: P533R

PubMed Link: 33578874

Variant Present in the following documents:

• Main text
• diagnostics-11-00273.pdf

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Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).

Orphanet Journal Of Rare Diseases

Guffon, N N; Pettazzoni, M M; Pangaud, N N; Garin, C C; Lina-Granade, G G; Plault, C C; Mottolese, C C; Froissart, R R; Fouilhoux, A A

Publication Date: 2021-01-31

Variant appearance in text: IDUA: P533R

PubMed Link: 33517895

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1644.pdf

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Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.

Biomed Research International

Nan, Haiyan H; Park, Chanbum C; Maeng, Sungho S

Publication Date: 2020

Variant appearance in text: IDUA: P533R

PubMed Link: 33344633

Variant Present in the following documents:

• Main text
• BMRI2020-2408402.pdf

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: rs121965021

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.

International Journal Of Neonatal Screening

Yu, Seok-Ho SH; Pollard, Laura L; Wood, Tim T; Flanagan-Steet, Heather H; Steet, Richard R

Publication Date: 2020-11-12

Variant appearance in text: IDUA: Pro533Arg

PubMed Link: 33198351

Variant Present in the following documents:

• Main text

View BVdb publication page

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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, Vincenza V; Gueraldi, Daniela D; Rubert, Laura L; Manzoni, Francesca F; Cazzorla, Chiara C; Giuliani, Antonella A; Polo, Giulia G; Salviati, Leonardo L; Burlina, Alberto A

Publication Date: 2020-11-02

Variant appearance in text: IDUA: P533R

PubMed Link: 33147872

Variant Present in the following documents:

• Main text
• IJNS-06-00085.pdf

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: IDUA: 1598C>G; Pro533Arg; rs121965021

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

International Journal Of Neonatal Screening

Burlina, Alberto B AB; Polo, Giulia G; Rubert, Laura L; Gueraldi, Daniela D; Cazzorla, Chiara C; Duro, Giovanni G; Salviati, Leonardo L; Burlina, Alessandro P AP

Publication Date: 2019-06

Variant appearance in text: IDUA: P533R

PubMed Link: 33072983

Variant Present in the following documents:

• Main text
• IJNS-05-00024.pdf

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Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients.

International Journal Of Molecular Sciences

Shukla, Praveen P; Dvorak, Christopher C CC; Long-Boyle, Janel J; Kharbanda, Sandhya S

Publication Date: 2020-08-06

Variant appearance in text: IDUA: 1598C>G

PubMed Link: 32781600

Variant Present in the following documents:

• Main text

View BVdb publication page

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Precision Medicine for Lysosomal Disorders.

Biomolecules

Pinto E Vairo, Filippo F; Rojas Málaga, Diana D; Kubaski, Francyne F; Fischinger Moura de Souza, Carolina C; de Oliveira Poswar, Fabiano F; Baldo, Guilherme G; Giugliani, Roberto R

Publication Date: 2020-07-26

Variant appearance in text: IDUA: P533R

PubMed Link: 32722587

Variant Present in the following documents:

• biomolecules-10-01110.pdf

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Mucopolysaccharidosis Type I.

Diagnostics (Basel, Switzerland)

Kubaski, Francyne F; de Oliveira Poswar, Fabiano F; Michelin-Tirelli, Kristiane K; Matte, Ursula da Silveira UDS; Horovitz, Dafne D DD; Barth, Anneliese Lopes AL; Baldo, Guilherme G; Vairo, Filippo F; Giugliani, Roberto R

Publication Date: 2020-03-16

Variant appearance in text: IDUA: Pro533Arg

PubMed Link: 32188113

Variant Present in the following documents:

• Main text

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Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.

Journal Of Clinical Medicine

Brailova, Marina M; Clerfond, Guillaume G; Trésorier, Romain R; Minet-Quinard, Régine R; Durif, Julie J; Massoullié, Grégoire G; Pereira, Bruno B; Sapin, Vincent V; Eschalier, Romain R; Bouvier, Damien D

Publication Date: 2020-03-04

Variant appearance in text: IDUA: P533R

PubMed Link: 32143453

Variant Present in the following documents:

• Main text
• jcm-09-00694.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: IDUA: 1598C>G; Pro533Arg; rs121965021

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.

Journal Of Clinical Laboratory Analysis

Taghikhani, Mohammad M; Khatami, Shohreh S; Abdi, Mohammad M; Hakhamaneshi, Mohammad Said MS; Alaei, Mohammad Reza MR; Zamanfar, Daniel D; Vakili, Rahim R

Publication Date: 2019-10

Variant appearance in text: IDUA: Pro533Arg; rs121965021

PubMed Link: 31386236

Variant Present in the following documents:

• Main text
• JCLA-33-e22963.pdf

View BVdb publication page

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"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Molecular Genetics & Genomic Medicine

Jahic, Amir A; Günther, Sven S; Muschol, Nicole N; Fossøy Stadheim, Barbro B; Braaten, Øivind Ø; Kjensli Hyldebrandt, Hanne H; Kuiper, Gé-Ann GA; Tylee, Karen K; Wijburg, Frits A FA; Beetz, Christian C

Publication Date: 2019-09

Variant appearance in text: IDUA: 1598C>G; P533R

PubMed Link: 31319022

Variant Present in the following documents:

• Main text

View BVdb publication page

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A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.

Molecular Genetics And Metabolism Reports

Ahmed, Alia A; Ou, Li L; Rudser, Kyle K; Shapiro, Elsa E; Eisengart, Julie B JB; King, Kelly K; Chen, Agnes A; Dickson, Patricia P; Whitley, Chester B CB

Publication Date: 2019-09

Variant appearance in text: IDUA: P533R

PubMed Link: 31304092

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clinical Genetics

Clarke, Lorne A LA; Giugliani, Roberto R; Guffon, Nathalie N; Jones, Simon A SA; Keenan, Hillary A HA; Munoz-Rojas, Maria V MV; Okuyama, Torayuki T; Viskochil, David D; Whitley, Chester B CB; Wijburg, Frits A FA; Muenzer, Joseph J

Publication Date: 2019-10

Variant appearance in text: IDUA: P533R

PubMed Link: 31194252

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: IDUA: 1598C>G; Pro533Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo

Kyosen, Sandra Obikawa SO; Toma, Leny L; Nader, Helena Bonciani HB; Braga, Marion Coting MC; Pereira, Vanessa Gonçalves VG; Canossa, Sueli S; Pesquero, João Bosco JB; D'Almeida, Vânia V; Martins, Ana Maria AM

Publication Date: 2019

Variant appearance in text: IDUA: P533R

PubMed Link: 31090850

Variant Present in the following documents:

• Main text
• 0103-0582-rpp-2019-37-3-00010.pdf

View BVdb publication page

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Clinical implementation of gene panel testing for lysosomal storage diseases.

Molecular Genetics & Genomic Medicine

Gheldof, Alexander A; Seneca, Sara S; Stouffs, Katrien K; Lissens, Willy W; Jansen, Anna A; Laeremans, Hilde H; Verloo, Patrick P; Schoonjans, An-Sofie AS; Meuwissen, Marije M; Barca, Diana D; Martens, Geert G; De Meirleir, Linda L

Publication Date: 2019-02

Variant appearance in text: IDUA: 1598C>G

PubMed Link: 30548430

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Italian Journal Of Pediatrics

Filocamo, Mirella M; Tomanin, Rosella R; Bertola, Francesca F; Morrone, Amelia A

Publication Date: 2018-11-16

Variant appearance in text: IDUA: Pro533Arg

PubMed Link: 30442161

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn screening in mucopolysaccharidoses.

Italian Journal Of Pediatrics

Donati, Maria Alice MA; Pasquini, Elisabetta E; Spada, Marco M; Polo, Giulia G; Burlina, Alberto A

Publication Date: 2018-11-16

Variant appearance in text: IDUA: 1598C>G

PubMed Link: 30442156

Variant Present in the following documents:

• Main text
• 13052_2018_Article_552.pdf

View BVdb publication page

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Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.

Bmc Endocrine Disorders

Martins, Ana Maria AM; Lindstrom, Kristin K; Kyosen, Sandra Obikawa SO; Munoz-Rojas, Maria Veronica MV; Thibault, Nathan N; Polgreen, Lynda E LE

Publication Date: 2018-11-12

Variant appearance in text: IDUA: 1598C>G; P533R

PubMed Link: 30419879

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.

Orphanet Journal Of Rare Diseases

Giugliani, Roberto R; Giugliani, Luciana L; de Oliveira Poswar, Fabiano F; Donis, Karina Carvalho KC; Corte, Amauri Dalla AD; Schmidt, Mathias M; Boado, Ruben J RJ; Nestrasil, Igor I; Nguyen, Carol C; Chen, Steven S; Pardridge, William M WM

Publication Date: 2018-07-05

Variant appearance in text: IDUA: P533R

PubMed Link: 29976218

Variant Present in the following documents:

• Main text
• 13023_2018_Article_849.pdf

View BVdb publication page

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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

Diagnostic Pathology

Chkioua, Latifa L; Boudabous, Hela H; Jaballi, Ibtissem I; Grissa, Oussama O; Turkia, Hadhami Ben HB; Tebib, Neji N; Laradi, Sandrine S

Publication Date: 2018-05-29

Variant appearance in text: IDUA: P533R

PubMed Link: 29843745

Variant Present in the following documents:

• Main text
• 13000_2018_Article_710.pdf

View BVdb publication page

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Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine

Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H

Publication Date: 2018-03

Variant appearance in text: IDUA: Pro533Arg

PubMed Link: 29663716

Variant Present in the following documents:

• Main text
• MGG3-6-134.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: IDUA: 1598C>G; Pro533Arg; rs121965021

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.

Human Molecular Genetics

Hinderer, Christian C; Katz, Nathan N; Louboutin, Jean-Pierre JP; Bell, Peter P; Tolar, Jakub J; Orchard, Paul J PJ; Lund, Troy C TC; Nayal, Mohamad M; Weng, Liwei L; Mesaros, Clementina C; de Souza, Carolina F M CFM; Dalla Corte, Amauri A; Giugliani, Roberto R; Wilson, James M JM

Publication Date: 2017-10-01

Variant appearance in text: IDUA: P533R

PubMed Link: 28934395

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases

Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB

Publication Date: 2017-07-04

Variant appearance in text: IDUA: P533R; rs121965021

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

View BVdb publication page

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Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.

Molecular Genetics And Metabolism Reports

Azab, Belal B; Dardas, Zain Z; Hamarsheh, Mohannad M; Alsalem, Mohammad M; Kilani, Zaid Z; Kilani, Farah F; Awidi, Abdalla A; Jafar, Hanan H; Amr, Sami S

Publication Date: 2017-09

Variant appearance in text: IDUA: P533R

PubMed Link: 28649516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: IDUA: 1598C>G; Pro533Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.

Molecular Genetics And Metabolism Reports

Pineda, Tatiana T; Marie, Sulie S; Gonzalez, Janneth J; García, Ana L AL; Acosta, Amparo A; Morales, Manuel M; Correa, Luz N LN; Vivas, Ricardo R; Escobar, Xiomara X; Protzel, Ana A; Barba, Maria M; Ospina, Sandra S; Corredor, Clara C; Mansilla, Sandra S; Velasco, Harvy M HM

Publication Date: 2014

Variant appearance in text: MPSI: P533R

PubMed Link: 27896125

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

Bmc Medical Genetics

Kwak, Min Jung MJ; Huh, Rimm R; Kim, Jinsup J; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2016-08-12

Variant appearance in text: IDUA: P533R

PubMed Link: 27520059

Variant Present in the following documents:

• 12881_2016_Article_319.pdf

View BVdb publication page

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Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.

International Journal Of Molecular Sciences

Tebani, Abdellah A; Zanoutene-Cheriet, Lahouaria L; Adjtoutah, Zoubir Z; Abily-Donval, Lenaig L; Brasse-Lagnel, Carole C; Laquerrière, Annie A; Marret, Stephane S; Chalabi Benabdellah, Abla A; Bekri, Soumeya S

Publication Date: 2016-05-17

Variant appearance in text: IDUA: 1598C>G

PubMed Link: 27196898

Variant Present in the following documents:

• Main text
• ijms-17-00743.pdf

View BVdb publication page

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Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

Jimd Reports

Kunin-Batson, A S AS; Shapiro, E G EG; Rudser, K D KD; Lavery, C A CA; Bjoraker, K J KJ; Jones, S A SA; Wynn, R F RF; Vellodi, A A; Tolar, J J; Orchard, P J PJ; Wraith, J E JE

Publication Date: 2016

Variant appearance in text: IDUA: P533R

PubMed Link: 26825088

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IDUA: P533R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation.

Jimd Reports

Coletti, Hannah Y HY; Aldenhoven, Mieke M; Yelin, Karina K; Poe, Michele D MD; Kurtzberg, Joanne J; Escolar, Maria L ML

Publication Date: 2015

Variant appearance in text: IDUA: P533R

PubMed Link: 25614311

Variant Present in the following documents:

• Main text

View BVdb publication page

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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.

Genetics And Molecular Biology

Dornelles, Alícia Dorneles AD; de Camargo Pinto, Louise Lapagesse LL; de Paula, Ana Carolina AC; Steiner, Carlos Eduardo CE; Lourenço, Charles Marques CM; Kim, Chong Ae CA; Horovitz, Dafne Dain Gandelman DD; Ribeiro, Erlane Marques EM; Valadares, Eugênia Ribeiro ER; Goulart, Isabela I; Neves de Souza, Isabel C IC; da Costa Neri, João Ivanildo JI; Santana-da-Silva, Luiz Carlos LC; Silva, Luiz Roberto LR; Ribeiro, Márcia M; de Oliveira Sobrinho, Ruy Pires RP; Giugliani, Roberto R; Schwartz, Ida Vanessa Doederlein IV

Publication Date: 2014-03

Variant appearance in text: MPSI: P533R

PubMed Link: 24688287

Variant Present in the following documents:

• Main text
• gmb-37-23.pdf

View BVdb publication page

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Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

Molecular Genetics And Metabolism

Ahmed, Alia A; Whitley, Chester B CB; Cooksley, Renee R; Rudser, Kyle K; Cagle, Stephanie S; Ali, Nadia N; Delaney, Kathleen K; Yund, Brianna B; Shapiro, Elsa E

Publication Date: 2014-02

Variant appearance in text: IDUA: P533R

PubMed Link: 24368159

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Nature Chemical Biology

Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN

Publication Date: 2013-11

Variant appearance in text: IDUA: Pro533Arg

PubMed Link: 24036510

Variant Present in the following documents:

• Main text

View BVdb publication page

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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Orphanet Journal Of Rare Diseases

Kingma, Sandra D K SD; Langereis, Eveline J EJ; de Klerk, Clasine M CM; Zoetekouw, Lida L; Wagemans, Tom T; IJlst, Lodewijk L; Wanders, Ronald J A RJ; Wijburg, Frits A FA; van Vlies, Naomi N

Publication Date: 2013-07-09

Variant appearance in text: IDUA: P533R

PubMed Link: 23837464

Variant Present in the following documents:

• Main text

View BVdb publication page

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