| 1 |
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. ( 30083803
)
|
Oussoren E...Langeveld M
|
2018 |
| 2 |
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series. ( 29671225
)
|
Selvanathan A...Bhattacharya K
|
2018 |
| 3 |
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. ( 29654546
)
|
Bush D...Baker P
|
2018 |
| 4 |
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. ( 30006231
)
|
Yi F...Gelb MH
|
2018 |
| 5 |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. ( 30070758
)
|
Lin HY...Lin SP
|
2018 |
| 6 |
Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media. ( 30049674
)
|
Yodoshi T...Hurt TL
|
2018 |
| 7 |
Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy. ( 30047587
)
|
Shibata A...Akiyama M
|
2018 |
| 8 |
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 29468207
)
|
Mack HG...de Jong G
|
2018 |
| 9 |
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. ( 28911234
)
|
Genger SC...Giger U
|
2018 |
| 10 |
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse. ( 29251941
)
|
Boado RJ...Pardridge WM
|
2018 |
| 11 |
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA. ( 29408731
)
|
Webber DL...O'Keefe LV
|
2018 |
| 12 |
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. ( 29654542
)
|
Guo N...Simonaro CM
|
2018 |
| 13 |
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient. ( 29800929
)
|
Dostalova G...Magner M
|
2018 |
| 14 |
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report. ( 30091163
)
|
Sisinni L...Badell I
|
2018 |
| 15 |
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. ( 30118150
)
|
Tomanin R...Hopwood JJ
|
2018 |
| 16 |
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review. ( 30136255
)
|
Gomes DF...da Silva EN
|
2018 |
| 17 |
A model of mucopolysaccharidosis type IIIB in pigs. ( 30257828
)
|
Yang Q...Huang L
|
2018 |
| 18 |
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. ( 30335002
)
|
Ley-Martos M...Macher HC
|
2018 |
| 19 |
Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons. ( 30413728
)
|
Bay?-Puxan N...Kremer EJ
|
2018 |
| 20 |
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy. ( 30442200
)
|
Furlan F...Parini R
|
2018 |
| 21 |
Pharmacokinetic and Pharmacodynamic Modeling to Optimize the Dose of Vestronidase Alfa, an Enzyme Replacement Therapy for Treatment of Patients with Mucopolysaccharidosis Type VII: Results from Three Trials. ( 30467742
)
|
Qi Y...Shi J
|
2018 |
| 22 |
Correction to: Pharmacokinetic and Pharmacodynamic Modeling to Optimize the Dose of Vestronidase Alfa, an Enzyme Replacement Therapy for Treatment of Patients with Mucopolysaccharidosis Type VII: Results from Three Trials. ( 30515718
)
|
Qi Y...Shi J
|
2018 |
| 23 |
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients. ( 30524696
)
|
Malekpour N...Hamzehloie T
|
2018 |
| 24 |
New treatment method for mucopolysaccharidosis type VI by liver transplantation. ( 30548979
)
|
Toyama S...Okuyama T
|
2018 |
| 25 |
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report. ( 28820625
)
|
Salvucci IDM...Pimentel SLG
|
2018 |
| 26 |
Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome). ( 29527552
)
|
Suzuki K...Takahashi K
|
2018 |
| 27 |
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report. ( 29860540
)
|
Horn F...Bzduch V
|
2018 |
| 28 |
Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I. ( 28695759
)
|
Middleton DM...Provenzale JM
|
2018 |
| 29 |
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I. ( 29159202
)
|
Le SQ...Dickson PI
|
2018 |
| 30 |
Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I. ( 29239447
)
|
Da Ros T...Fiorito S
|
2018 |
| 31 |
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler). ( 29240299
)
|
Javed A...Ashworth J
|
2018 |
| 32 |
Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. ( 29273385
)
|
Saville JT...Fuller M
|
2018 |
| 33 |
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. ( 29282708
)
|
Ngiwsara L...Svasti J
|
2018 |
| 34 |
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases. ( 29336994
)
|
Sampayo-Cordero M...P?rez-L?pez J
|
2018 |
| 35 |
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I. ( 29442294
)
|
Pardridge WM...Schmidt M
|
2018 |
| 36 |
Stand-alone craniocervical decompression is feasible in children with mucopolysaccharidosis type I, IVA, and VI. ( 29649608
)
|
Krenzlin H...Schwarz M
|
2018 |
| 37 |
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment. ( 29797470
)
|
Tylki-Szyma?ska A...Scarpa M
|
2018 |
| 38 |
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. ( 29906569
)
|
van Doorn J...van Hasselt PM
|
2018 |
| 39 |
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. ( 30242902
)
|
Parini R...Zeman J
|
2018 |
| 40 |
Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy. ( 30259180
)
|
Schuh RS...Teixeira HF
|
2018 |
| 41 |
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights. ( 30419879
)
|
Martins AM...Polgreen LE
|
2018 |
| 42 |
EGFR activation triggers cellular hypertrophy and lysosomal disease in NAGLU-depleted cardiomyoblasts, mimicking the hallmarks of mucopolysaccharidosis IIIB. ( 29348482
)
|
De Pasquale V...Pavone LM
|
2018 |
| 43 |
Mitral Regurgitation and Heart Failure as the First Presentation in a Patient with Features of Two Connective Tissue Disorders: A Rare Combination of Mucopolysaccharidosis and Osteogenesis Imperfecta? ( 29225276
)
|
Hamatani Y...Anzai T
|
2018 |
| 44 |
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II. ( 29289480
)
|
Hoshina H...Ohashi T
|
2018 |
| 45 |
Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis. ( 29299872
)
|
Schadewald A...Ou L
|
2018 |
| 46 |
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications. ( 29310675
)
|
Kuiper GA...Wijburg FA
|
2018 |
| 47 |
Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice. ( 29366749
)
|
Gonzalez EA...Baldo G
|
2018 |
| 48 |
Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI. ( 29376740
)
|
Bulut E...Ozgen B
|
2018 |
| 49 |
Neurophysiology of hearing in patients with mucopolysaccharidosis type IV. ( 29472067
)
|
Nagao K...Tomatsu S
|
2018 |
| 50 |
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. ( 29478819
)
|
Harmatz P...Kakkis E
|
2018 |
Rare neurological diseases
