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Anakinra in Sanfilippo syndrome: a phase 1/2 trial

Nature medicine, 2024-06

2024

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Author Correction: Anakinra in Sanfilippo syndrome: a phase 1/2 trial

Nature medicine, 2024-07

2024

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Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann–Pick C1

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.75-79

2015

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Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.80-90

2020

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Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy

Clinica chimica acta, 2020-09, Vol.508, p.179-184

2020

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Genetics in medicine, 2019-04, Vol.21 (4), p.1008-1014

2019

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Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.91-97

2020

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Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.69-74

2015

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Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I

Science translational medicine, 2010-12, Vol.2 (60), p.60ra89

2010

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Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.115-122

2010

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Phase I/II clinical trial of anakinra in Sanfilippo syndrome: Outcomes from 8 weeks of a palliative treatment

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S100-S100

2022

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Quantification of dermatan sulfate and heparan sulfate in cerebrospinal fluid using liquid chromatography-tandem mass spectrometry for therapeutic monitoring of patients with mucopolysaccharidoses

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S123-S123

2016

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A photoionization mass spectroscopic study on the formation of phosphanes in low temperature phosphine ices

Physical chemistry chemical physics : PCCP, 2015-01, Vol.17 (41), p.27281-27291

2015

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Synthesis of Polycyclic Aromatic Hydrocarbons by Phenyl Addition–Dehydrocyclization: The Third Way

Angewandte Chemie (International ed.), 2019-11, Vol.58 (48), p.17442-17450

International ed. in English, 2019

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Gas phase identification of the elusive oxaziridine (cyclo-HCONH) - an optically active molecule

Chemical communications (Cambridge, England), 2020-12, Vol.56 (1), p.15643-15646

2020

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Antioxidant chemistry of graphene-based materials and its role in oxidation protection technology

Nanoscale, 2014-10, Vol.6 (20), p.11744-11755

2014

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Mechanistical Studies on the Irradiation of Methanol in Extraterrestrial Ices

The Astrophysical journal, 2007-05, Vol.660 (2), p.1588-1608

2007

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A Vacuum Ultraviolet Photoionization Study on the Formation of N-methyl Formamide (HCONHCH3) in Deep Space: A Potential Interstellar Molecule with a Peptide Bond

The Astrophysical journal, 2018-07, Vol.862 (1), p.84

2018

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The Elusive Ketene (H2CCO) Channel in the Infrared Multiphoton Dissociation of Solid 1,3,5‐Trinitro‐1,3,5‐Triazinane (RDX)

Chemphyschem, 2020-05, Vol.21 (9), p.837-842

2020

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Luminescent Pt(II) Complexes Containing (1-Aza-15-crown-5)dithiocarbamate and (1-Aza-18-crown-6)dithiocarbamate: Mechanochromic and Solvent-Induced Luminescence

Inorganic chemistry, 2023-01, Vol.62 (2), p.916-929

2023

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PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors

Nature genetics, 2014-11, Vol.46 (11), p.1227-1232

2014

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Gas Phase Synthesis of the Elusive Trisilacyclopropyl Radical (Si3H5) via Unimolecular Decomposition of Chemically Activated Doublet Trisilapropyl Radicals (Si3H7)

The journal of physical chemistry letters, 2020-09, Vol.11 (18), p.7874-7881

2020

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Brain eicosapentaenoic acid metabolism as a lead for novel therapeutics in major depression

Brain, behavior, and immunity, 2020-03, Vol.85, p.21-28

2020

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First identification of unstable phosphino formic acid (H 2 PCOOH)

Chemical communications (Cambridge, England), 2018-05, Vol.54 (45), p.5716-5719

2018

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Directed Gas-Phase Formation of the Germaniumsilylene Butterfly Molecule (Ge(μ‑H2)Si)

The journal of physical chemistry letters, 2019-03, Vol.10 (6), p.1264-1271

2019

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Anakinra in Sanfilippo syndrome: a phase 1/2 trial

Author Correction: Anakinra in Sanfilippo syndrome: a phase 1/2 trial

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann–Pick C1

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study

Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I

Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I

Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I

Phase I/II clinical trial of anakinra in Sanfilippo syndrome: Outcomes from 8 weeks of a palliative treatment

Quantification of dermatan sulfate and heparan sulfate in cerebrospinal fluid using liquid chromatography-tandem mass spectrometry for therapeutic monitoring of patients with mucopolysaccharidoses

A photoionization mass spectroscopic study on the formation of phosphanes in low temperature phosphine ices

Synthesis of Polycyclic Aromatic Hydrocarbons by Phenyl Addition–Dehydrocyclization: The Third Way

Gas phase identification of the elusive oxaziridine (cyclo-HCONH) - an optically active molecule

Antioxidant chemistry of graphene-based materials and its role in oxidation protection technology

Mechanistical Studies on the Irradiation of Methanol in Extraterrestrial Ices

A Vacuum Ultraviolet Photoionization Study on the Formation of N-methyl Formamide (HCONHCH3) in Deep Space: A Potential Interstellar Molecule with a Peptide Bond

The Elusive Ketene (H2CCO) Channel in the Infrared Multiphoton Dissociation of Solid 1,3,5‐Trinitro‐1,3,5‐Triazinane (RDX)

Luminescent Pt(II) Complexes Containing (1-Aza-15-crown-5)dithiocarbamate and (1-Aza-18-crown-6)dithiocarbamate: Mechanochromic and Solvent-Induced Luminescence

PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors

Gas Phase Synthesis of the Elusive Trisilacyclopropyl Radical (Si3H5) via Unimolecular Decomposition of Chemically Activated Doublet Trisilapropyl Radicals (Si3H7)

Brain eicosapentaenoic acid metabolism as a lead for novel therapeutics in major depression

First identification of unstable phosphino formic acid (H 2 PCOOH)

Directed Gas-Phase Formation of the Germaniumsilylene Butterfly Molecule (Ge(μ‑H2)Si)

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