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Last Updated: 01/07/2026

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Found 7677 publications

Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.

Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.

Journal: Journal of clinical research in pediatric endocrinology
Published: December 04, 2025

Quantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome.

Quantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome.

Journal: Bioanalysis
Published: December 02, 2025

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

Journal: Molecular imaging and radionuclide therapy
Published: December 01, 2025

Intraoperative Neuromonitoring Assists in Detecting Positioning-Associated Ischemia in Non-Spine Surgery in Morquio Syndrome: A Case Report.

Intraoperative Neuromonitoring Assists in Detecting Positioning-Associated Ischemia in Non-Spine Surgery in Morquio Syndrome: A Case Report.

Journal: A&A practice
Published: November 10, 2025

Management of Neuropsychiatric Symptoms Associated With Morquio Syndrome.

Management of Neuropsychiatric Symptoms Associated With Morquio Syndrome.

Journal: The primary care companion for CNS disorders
Published: October 01, 2025

Effects of in ovo injection of 25(OH)D3 in combination with Marek's disease vaccine on hatchability, performance and bone health of broilers.

Effects of in ovo injection of 25(OH)D3 in combination with Marek's disease vaccine on hatchability, performance and bone health of broilers.

Journal: British poultry science
Published: September 29, 2025

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review.

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review.

Journal: Cureus
Published: September 23, 2025

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

Journal: International journal of molecular sciences
Published: September 12, 2025

Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA.

Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA.

Journal: Current issues in molecular biology
Published: September 12, 2025

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case.

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case.

Journal: Intractable & rare diseases research
Published: September 01, 2025

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Journal: Pediatric transplantation
Published: August 29, 2025

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Journal: Molecular biology reports
Published: August 28, 2025
Showing 1-12 of 7,677

Last Updated: 01/07/2026