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Differences in MPS I and MPS II Disease Manifestations

International journal of molecular sciences, 2021-07, Vol.22 (15), p.7888

2021

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Hematopoietic Stem Cell Transplantation in CSF1R -Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes

Pharmaceutics, 2022-12, Vol.14 (12), p.2778

2022

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Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

Biomolecules (Basel, Switzerland), 2021-01, Vol.11 (2), p.189

2021

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Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy

Scientific reports, 2022-05, Vol.12 (1), p.7985-7985, Article 7985

2022

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Prevalence of glucose-6-phosphate dehydrogenase deficiency in Cameroonian blood donors

BMC research notes, 2019-04, Vol.12 (1), p.195-195, Article 195

2019

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Skeletal muscle contractile function and neuromuscular performance in Zmpste24 −/− mice, a murine model of human progeria

AGE, 2012-08, Vol.34 (4), p.805-819

2012

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Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice

Molecular therapy. Methods & clinical development, 2024-03, Vol.32 (1), p.101201-101201, Article 101201

2024

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Failure of intrathecal allogeneic mesenchymal stem cells to halt progressive demyelination in two boys with cerebral adrenoleukodystrophy

Stem cells translational medicine, 2020-05, Vol.9 (5), p.554-558

2020

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Isoprostanoid Plasma Levels Are Relevant to Cerebral Adrenoleukodystrophy Disease

Life (Basel, Switzerland), 2022-01, Vol.12 (2), p.146

2022

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Open‐Label Pilot Study of Interferon Gamma–1b in Patients With Non‐Infantile Osteopetrosis

JBMR plus, 2022-03, Vol.6 (3), p.e10597-n/a

2022

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A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor

F&S Reports (Online), 2023-03, Vol.4 (1), p.24-28

2023

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Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy

Communications medicine, 2024-09, Vol.4 (1), p.175-16, Article 175

2024

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Hematopoietic cell transplantation for sialidosis type I

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100832-100832, Article 100832

2022

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Filtered sunlight versus intensive electric powered phototherapy in moderate-to-severe neonatal hyperbilirubinaemia: a randomised controlled non-inferiority trial

The Lancet global health, 2018-10, Vol.6 (10), p.e1122-e1131

2018

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Phototherapy Alters the Plasma Metabolite Profile in Infants Born Preterm with Hyperbilirubinemia

The Journal of pediatrics, 2024-11, Vol.274, p.114175, Article 114175

2024

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Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

JIMD reports, 2021-03, Vol.58 (1), p.89-99

2021

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VUS: Variant of uncertain significance or very unclear situation?

Molecular genetics and metabolism, 2023-09, Vol.140 (1-2), p.107678-107678, Article 107678

2023

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Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion

Molecular therapy, 2024-10, Vol.32 (10), p.3313-3317

2024

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Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

Expert opinion on biological therapy, 2022-09, Vol.22 (9), p.1151-1162

2022

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Blood Levels of Environmental Heavy Metals are Associated with Poorer Iron Status in Ugandan Children: A Cross-Sectional Study

The Journal of nutrition, 2023-10, Vol.153 (10), p.3023-3031

2023

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IDH-mutant astrocytoma arising from a demyelinating plaque in a child with X-linked adrenoleukodystrophy

Journal of neuropathology and experimental neurology, 2024-03, Vol.83 (4), p.289-292

2024

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Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107669-107669, Article 107669

2023

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Outcome After Cord Blood Transplantation Using Busulfan Pharmacokinetics-Targeted Myeloablative Conditioning for Hurler Syndrome

Transplantation and cellular therapy, 2021-01, Vol.27 (1), p.91.e1-91.e4

2021

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Natural history of craniovertebral abnormalities in a single-center study in 54 patients with Hurler syndrome

Journal of neurosurgery. Pediatrics, 2024-06, p.1-9

2024

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Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT

Blood advances, 2017-10, Vol.1 (23), p.2083-2087

2017

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Differences in MPS I and MPS II Disease Manifestations

Hematopoietic Stem Cell Transplantation in CSF1R -Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy

Prevalence of glucose-6-phosphate dehydrogenase deficiency in Cameroonian blood donors

Skeletal muscle contractile function and neuromuscular performance in Zmpste24 −/− mice, a murine model of human progeria

Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice

Failure of intrathecal allogeneic mesenchymal stem cells to halt progressive demyelination in two boys with cerebral adrenoleukodystrophy

Isoprostanoid Plasma Levels Are Relevant to Cerebral Adrenoleukodystrophy Disease

Open‐Label Pilot Study of Interferon Gamma–1b in Patients With Non‐Infantile Osteopetrosis

A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor

Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy

Hematopoietic cell transplantation for sialidosis type I

Filtered sunlight versus intensive electric powered phototherapy in moderate-to-severe neonatal hyperbilirubinaemia: a randomised controlled non-inferiority trial

Phototherapy Alters the Plasma Metabolite Profile in Infants Born Preterm with Hyperbilirubinemia

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

VUS: Variant of uncertain significance or very unclear situation?

Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

Blood Levels of Environmental Heavy Metals are Associated with Poorer Iron Status in Ugandan Children: A Cross-Sectional Study

IDH-mutant astrocytoma arising from a demyelinating plaque in a child with X-linked adrenoleukodystrophy

Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function

Outcome After Cord Blood Transplantation Using Busulfan Pharmacokinetics-Targeted Myeloablative Conditioning for Hurler Syndrome

Natural history of craniovertebral abnormalities in a single-center study in 54 patients with Hurler syndrome

Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT

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