Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Journal of Medical Genetics ◽

10.1136/jmg.39.2.e3 ◽

2002 ◽

Vol 39 (2) ◽

pp. 3e-3 ◽

Author(s):

G-J Lee-Chen

Keyword(s):

Syndrome Type ◽

Mucopolysaccharidosis Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Type Iiib ◽

Mucopolysaccharidosis Type Iiib

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Molecular Basis of Mucopolysaccharidosis Type IIIB in Emu (Dromaius novaehollandiae): An Avian Model of Sanfilippo Syndrome Type B<

Genomics ◽

10.1006/geno.2001.6552 ◽

2001 ◽

Vol 74 (3) ◽

pp. 299-305 ◽

Author(s):

Elena L. Aronovich ◽

Jade M. Johnston ◽

Ping Wang ◽

Urs Giger ◽

Chester B. Whitley

Keyword(s):

Molecular Basis ◽

Syndrome Type ◽

Mucopolysaccharidosis Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Type Iiib ◽

Dromaius Novaehollandiae ◽

Mucopolysaccharidosis Type Iiib

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Pathological and Biochemical Studies of Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) in Juvenile Emus (Dromaius novaehollandiae)

Veterinary Pathology ◽

10.1177/0300985814529314 ◽

2014 ◽

Vol 52 (1) ◽

pp. 160-169 ◽

Author(s):

C. Palmieri ◽

U. Giger ◽

P. Wang ◽

M. Pizarro ◽

H. L. Shivaprasad

Keyword(s):

Syndrome Type ◽

Mucopolysaccharidosis Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Type Iiib ◽

Dromaius Novaehollandiae ◽

Biochemical Studies ◽

Mucopolysaccharidosis Type Iiib

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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Journal of Medical Genetics ◽

10.1136/jmg.35.11.910 ◽

1998 ◽

Vol 35 (11) ◽

pp. 910-914 ◽

Author(s):

C E Beesley ◽

E P Young ◽

A Vellodi ◽

B G Winchester

Keyword(s):

Syndrome Type ◽

Mucopolysaccharidosis Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Novel Mutations ◽

Type Iiib ◽

Mucopolysaccharidosis Type Iiib

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Safety, tolerability and preliminary evidence of biopotency in Transpher B, a multicenter, single-dose, phase 1/2 clinical trial of ABO-101 gene therapy for Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.11.274 ◽

2020 ◽

Vol 129 (2) ◽

pp. S107 ◽

Author(s):

Kim L. McBride ◽

Maria Luz Couce ◽

Kevin M. Flanigan ◽

Kristen V. Truxal ◽

Tabatha Simmons ◽

...

Keyword(s):

Clinical Trial ◽

Gene Therapy ◽

Single Dose ◽

Phase 1 ◽

Preliminary Evidence ◽

Syndrome Type ◽

Mucopolysaccharidosis Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Mucopolysaccharidosis Type Iiib

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Intravenous SBC-103, a recombinant human alpha-N-acetylglucosaminidase reduces CNS heparan sulfate content in a mucopolysaccharidosis type IIIB mouse model

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2013.12.222 ◽

2014 ◽

Vol 111 (2) ◽

pp. S92 ◽

Author(s):

Joseph V. Rutkowski ◽

Kari Harbert ◽

Hao Xu ◽

Wei Hu ◽

Matthew Renninger ◽

...

Keyword(s):

Mouse Model ◽

Heparan Sulfate ◽

Mucopolysaccharidosis Type ◽

Sulfate Content ◽

Type Iiib ◽

Mucopolysaccharidosis Type Iiib

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The neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2016.01.003 ◽

2016 ◽

Vol 6 ◽

pp. 41-47 ◽

Author(s):

E. Shapiro ◽

K. King ◽

A. Ahmed ◽

K. Rudser ◽

R. Rumsey ◽

...

Keyword(s):

Exploratory Study ◽

Mucopolysaccharidosis Type ◽

Type Iiib ◽

Mucopolysaccharidosis Type Iiib

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Design and rationale of ongoing observational and treatment studies for BMN 250: a novel enzyme replacement therapy for Sanfilippo syndrome type B

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.11.317 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S122 ◽

Author(s):

Adam Shaywitz ◽

Stephen Maricich ◽

Hua Yu ◽

Steve Kent

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Enzyme Replacement

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Mucopolysaccharidosis IIIB (Sanfilippo syndrome type B) masquerading as a behavioral disorder

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2012.11.042 ◽

2013 ◽

Vol 108 (2) ◽

pp. S26

Author(s):

Jacqueline Brady ◽

Aditi Trehan ◽

Rena Godfrey ◽

Cynthia Tifft ◽

Cornelius Boerkoel ◽

...

Keyword(s):

Behavioral Disorder ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome

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Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.11.236 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S95

Author(s):

Olga L Meijer ◽

Heleen te Brinke ◽

Rob Ofman ◽

Lodewijk IJlst ◽

Naomi van Vlies ◽

...

Keyword(s):

Mucopolysaccharidosis Type ◽

Type Iiib ◽

Mucopolysaccharidosis Type Iiib

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Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.11.129 ◽

2020 ◽

Vol 129 (2) ◽

pp. S56-S57 ◽

Author(s):

Kevin M. Flanigan ◽

Nicholas J.C. Smith ◽

Maria Luz Couce ◽

Kristen V. Truxal ◽

Kim L. McBride ◽

...

Keyword(s):

Clinical Trial ◽

Gene Therapy ◽

Single Dose ◽

Phase 1 ◽

Type A ◽

Syndrome Type ◽

Mucopolysaccharidosis Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

Mucopolysaccharidosis Type Iiia

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