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

Ana Maria Martins; Kristin Lindstrom; Sandra Obikawa Kyosen; Maria Veronica Munoz-Rojas; Nathan Thibault; Lynda E. Polgreen

doi:10.1186/s12902-018-0311-x

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

BMC Endocrine Disorders ◽

10.1186/s12902-018-0311-x ◽

2018 ◽

Vol 18 (1) ◽

Cited By ~ 3

Author(s):

Ana Maria Martins ◽

Kristin Lindstrom ◽

Sandra Obikawa Kyosen ◽

Maria Veronica Munoz-Rojas ◽

Nathan Thibault ◽

...

Keyword(s):

Case Report ◽

Short Stature ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I

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Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report

Contemporary Clinical Dentistry ◽

10.4103/0976-237x.79287 ◽

2011 ◽

Vol 2 (1) ◽

pp. 66 ◽

Cited By ~ 4

Author(s):

Ramesh Tatapudi ◽

M Gunashekhar ◽

PSuryanarayana Raju

Keyword(s):

Case Report ◽

Rare Case ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I ◽

Scheie Syndrome ◽

Rare Case Report

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Mucopolysaccharidosis Type I Disease Prevalence among Idiopathic Short Stature Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study Protocol (Preprint)

JMIR Research Protocols ◽

10.2196/28619 ◽

2021 ◽

Author(s):

Danyah Alsafadi ◽

Aly Ezzat ◽

Fatima Altamimi ◽

Marwan ElBagoury ◽

Mohammed Olfat ◽

...

Keyword(s):

Saudi Arabia ◽

Short Stature ◽

Study Protocol ◽

Cross Sectional Study ◽

Disease Prevalence ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I ◽

Sectional Study ◽

Cross Sectional

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Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature

Surgical Neurology International ◽

10.4103/sni.sni_463_16 ◽

2017 ◽

Vol 8 (1) ◽

pp. 80 ◽

Cited By ~ 2

Author(s):

Tomoko Tanaka ◽

Vyacheslav Makler ◽

ChristinaL Goldstein ◽

Daniel Hoernschemeyer

Keyword(s):

Case Report ◽

Posterior Fossa ◽

Chiari I Malformation ◽

Posterior Fossa Decompression ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Hurler Syndrome ◽

Mucopolysaccharidosis Type I ◽

Review Of The Literature ◽

Chiari I

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A patient with mucopolysaccharidosis type I diagnosed at 38 of age with only one identifiable mutation: A case report from the newborn screening perspective

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.12.247 ◽

2015 ◽

Vol 114 (2) ◽

pp. S109

Author(s):

Elizabeth D. Smith ◽

Stephanie Cagle

Keyword(s):

Case Report ◽

Newborn Screening ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I

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A clinically mild case of mucopolysaccharidosis type I ?Scheie syndrome (case report)

European Radiology ◽

10.1007/bf00208355 ◽

1995 ◽

Vol 5 (5) ◽

Cited By ~ 1

Author(s):

K. Kozlowski ◽

R. Nicol ◽

J.J. Hopwood

Keyword(s):

Case Report ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I ◽

Mild Case ◽

Scheie Syndrome

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Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2021.05.009 ◽

2021 ◽

Author(s):

Johannes Roth ◽

Michal Inbar-Feigenberg ◽

Julian Raiman ◽

Marg Bisch ◽

Pranesh Chakraborty ◽

...

Keyword(s):

Knee Joints ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I ◽

Ultrasound Findings

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Phase I/II clinical trial design for a novel therapy for mucopolysaccharidosis type I with an intravenously administered blood-brain barrier-crossing enzyme (JR-171)

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2020.12.105 ◽

2021 ◽

Vol 132 (2) ◽

pp. S49

Author(s):

Ryo Higurashi ◽

Mika Okazaki ◽

Satoshi Kawashima ◽

Toshiaki Ikeda ◽

Sairei So ◽

...

Keyword(s):

Clinical Trial ◽

Phase I ◽

Blood Brain Barrier ◽

Trial Design ◽

Clinical Trial Design ◽

Brain Barrier ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I ◽

Novel Therapy

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Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I)

PLoS ONE ◽

10.1371/journal.pone.0220429 ◽

2019 ◽

Vol 14 (12) ◽

pp. e0220429 ◽

Cited By ~ 1

Author(s):

Ana Barbosa Mendes ◽

Cinthia Castro do Nascimento ◽

Vânia D’Almeida

Keyword(s):

Sexual Behaviour ◽

Murine Model ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I ◽

Mps I

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430. Antibodies to Recombinant Human α-L-Iduronidase Enhance Uptake into Macrophages in Murine Mucopolysaccharidosis Type I

Molecular Therapy ◽

10.1016/s1525-0016(16)33239-7 ◽

2016 ◽

Vol 24 ◽

pp. S170-S171

Author(s):

Valentina Sanghez ◽

Shih-Hsin Kan ◽

Steven Q Le ◽

Don Clarke ◽

Kristen Vondrak ◽

...

Keyword(s):

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I

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Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

PLoS ONE ◽

10.1371/journal.pone.0035787 ◽

2012 ◽

Vol 7 (4) ◽

pp. e35787 ◽

Cited By ~ 103

Author(s):

Fiona L. Wilkinson ◽

Rebecca J. Holley ◽

Kia J. Langford-Smith ◽

Soumya Badrinath ◽

Aiyin Liao ◽

...

Keyword(s):

Mouse Models ◽

Type I ◽

Mucopolysaccharidosis Type ◽

Mucopolysaccharidosis Type I

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