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Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI
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Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

Chan, Min-Ju ; Liao, Hsuan-Chieh ; Gelb, Michael H. ; Chuang, Chih-Kuang ; Liu, Mei-Ying ; Chen, Hsiao-Jan ; Kao, Shu-Min ; Lin, Hsiang-Yu ; Huang, You-Hsin ; Kumar, Arun Babu ; Chennamaneni, Naveen Kumar ; Pendem, Nagendar ; Lin, Shuan-Pei ; Chiang, Chuan-Chi

The Journal of pediatrics, 2019-02, Vol.205, p.176-182 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Estimated birth prevalence of mucopolysaccharidoses in Brazil
Estimated birth prevalence of mucopolysaccharidoses in Brazil
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Estimated birth prevalence of mucopolysaccharidoses in Brazil

Federhen, Andressa ; Pasqualim, Gabriela ; Freitas, Talita Freitas ; Gonzalez, Esteban Alberto ; Trapp, Franciele ; Matte, Ursula ; Giugliani, Roberto

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.469-483 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses
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Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses

Derrick-Roberts, Ainslie ; Kaidonis, Xenia ; Jackson, Matilda R. ; Liaw, Wan Chin ; Ding, XiaoDan ; Ong, Chun ; Ranieri, Enzo ; Sharp, Peter ; Fletcher, Janice ; Byers, Sharon

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.197-205 [Periódico revisado por pares]

United States: Elsevier Inc

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4
In vivo genome editing of the albumin locus as a platform for protein replacement therapy
In vivo genome editing of the albumin locus as a platform for protein replacement therapy
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In vivo genome editing of the albumin locus as a platform for protein replacement therapy

Sharma, Rajiv ; Anguela, Xavier M. ; Doyon, Yannick ; Wechsler, Thomas ; DeKelver, Russell C. ; Sproul, Scott ; Paschon, David E. ; Miller, Jeffrey C. ; Davidson, Robert J. ; Shivak, David ; Zhou, Shangzhen ; Rieders, Julianne ; Gregory, Philip D. ; Holmes, Michael C. ; Rebar, Edward J. ; High, Katherine A.

Blood, 2015-10, Vol.126 (15), p.1777-1784 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders
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Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders

Salvalaio, Marika ; Rigon, Laura ; Belletti, Daniela ; D'Avanzo, Francesca ; Pederzoli, Francesca ; Ruozi, Barbara ; Marin, Oriano ; Vandelli, Maria Angela ; Forni, Flavio ; Scarpa, Maurizio ; Tomanin, Rosella ; Tosi, Giovanni Ceña, Valentin

PloS one, 2016-05, Vol.11 (5), p.e0156452-e0156452 [Periódico revisado por pares]

United States: Public Library of Science

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6
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
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Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)

Ghaffari, Saeed R. ; Rafati, Maryam ; Shadnoush, Mahdi ; Pourbabaee, Shokooh ; Aghighi, Mohammad ; Mirab Samiee, Siamak ; Kermanchi, Jamshid ; Alaei, Mohammad R. ; Salehpour, Shadab ; Amirkashani, Davoud ; Setoodeh, Aria ; Sarkhail, Peymaneh ; Badv, Reza Shervin ; Aminzadeh, Majid ; Shiva, Siamak ; Eshraghi, Peyman ; Moravej, Hossein ; Hashemipour, Mahin ; Rostampour, Noushin ; Hamidieh, َAmir Ali ; Shamsian, Bibi Shahin ; Shams, Sedigheh ; Zamanfar, Daniel ; Ebrahimi, Ayoub ; Otadi, Ali ; Tara, Seyedeh Zahra ; Barati, Zeinab ; Fakhri, Laya ; Hoseini, Azadeh ; Amiri, Hosna ; Ramandi, Somayeh ; Mostofinezhad, Niusha ; Kani, Zahra Pahlevani ; Mohammadyari, Elham ; Khosravi, Mahsa ; Saadati, Masoome ; Hoseininasab, Fatemeh ; Khorram Khorshid, Hamid Reza ; Modaberisaber, Younes

Human mutation, 2022-04, Vol.43 (4), p.e1-e23 [Periódico revisado por pares]

United States: Hindawi Limited

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7
Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS After the Development of Cognitive Dysfunction
Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS After the Development of Cognitive Dysfunction
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Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS After the Development of Cognitive Dysfunction

Podetz-Pedersen, Kelly M ; Laoharawee, Kanut ; Singh, Sajya ; Nguyen, Tam T ; Smith, Miles C ; Temme, Alexa ; Kozarsky, Karen ; McIvor, R Scott ; Belur, Lalitha R

Human gene therapy, 2023-01, Vol.34 (1-2), p.8-18 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc., publishers

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8
Lysosomal storage disease: Gene therapy on both sides of the blood–brain barrier
Lysosomal storage disease: Gene therapy on both sides of the blood–brain barrier
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Lysosomal storage disease: Gene therapy on both sides of the blood–brain barrier

Aronovich, Elena L. ; Hackett, Perry B.

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.83-93 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
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Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Uttarilli, A. ; Ranganath, P. ; Matta, D. ; Md Nurul Jain, J. ; Prasad, K. ; Babu, A.S. ; Girisha, K.M. ; Verma, I.C. ; Phadke, S.R. ; Mandal, K. ; Puri, R.D. ; Aggarwal, S. ; Danda, S. ; Sankar, V.H. ; Kapoor, S. ; Bhat, M. ; Gowrishankar, K. ; Hasan, A.Q. ; Nair, M. ; Nampoothiri, S. ; Dalal, A.

Clinical genetics, 2016-12, Vol.90 (6), p.496-508 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy
Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy
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Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy

Guilheiro, Joice Marques ; Chaves, Marcelo Donizetti ; Martins, Ana Maria ; Ribeiro, Daniel Araki ; D'Almeida, Vania

Toxicology mechanisms and methods, 2014-12, Vol.24 (8), p.603-607 [Periódico revisado por pares]

England: Informa Healthcare USA, Inc

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