Multiple Sulfatase Deficiency Latest Advances

AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

Journal: IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society

Published: August 17, 2026

New structures of human formylglycine-generating enzyme reveal features important for catalysis, disease and structure-based drug design.

Journal: Journal of molecular biology

Published: February 18, 2026

Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA.

Journal: Journal of human genetics

Published: January 26, 2026

Intravenous Delivery of a Gene Therapy Vector that Expresses an Antitransferrin Receptor 1 Nanobody-I2S Fusion Protein Rescued Central Nervous System Lysosomal Burden in Mucopolysaccharidosis II Mice.

Journal: Human gene therapy

Published: December 29, 2025

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.

Journal: BMC pediatrics

Published: December 01, 2025

Allogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.

Journal: Transplantation and cellular therapy

Published: November 30, 2025

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Journal: NeuroImage. Clinical

Published: November 24, 2025

Progress and challenges in intrathecal gene therapy for neurological disorders.

Journal: EBioMedicine

Published: November 05, 2025

T1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.

Journal: Journal of pediatric orthopedics

Published: November 05, 2025

N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives.

Journal: Cerebellum (London, England)

Published: November 04, 2025

Prenatal Screening for Fetal X-Linked Ichthyosis: A Large Cohort Study Combining Non-Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis.

Journal: Prenatal diagnosis

Published: October 23, 2025

Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.

Journal: BMC pediatrics

Published: September 15, 2025

Multiple Sulfatase Deficiency Latest Advances

Find the Latest Research About Multiple Sulfatase Deficiency

AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

New structures of human formylglycine-generating enzyme reveal features important for catalysis, disease and structure-based drug design.

New structures of human formylglycine-generating enzyme reveal features important for catalysis, disease and structure-based drug design.

Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA.

Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA.

Intravenous Delivery of a Gene Therapy Vector that Expresses an Antitransferrin Receptor 1 Nanobody-I2S Fusion Protein Rescued Central Nervous System Lysosomal Burden in Mucopolysaccharidosis II Mice.

Intravenous Delivery of a Gene Therapy Vector that Expresses an Antitransferrin Receptor 1 Nanobody-I2S Fusion Protein Rescued Central Nervous System Lysosomal Burden in Mucopolysaccharidosis II Mice.

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.

Allogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.

Allogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Progress and challenges in intrathecal gene therapy for neurological disorders.

Progress and challenges in intrathecal gene therapy for neurological disorders.

T1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.

T1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.

N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives.

N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives.

Prenatal Screening for Fetal X-Linked Ichthyosis: A Large Cohort Study Combining Non-Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis.

Prenatal Screening for Fetal X-Linked Ichthyosis: A Large Cohort Study Combining Non-Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis.

Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.

Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.