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Found 21 publications

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.

Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.

Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.

A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.

Short-term outcomes of total hip arthroplasty in the treatment of Tönnis grade 3 hip osteoarthritis in patients with spondyloepiphyseal dysplasia.

Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings.

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.

Showing 1-12 of 21