Results 81 to 90 of about 5,240 (183)

Mucopolisacaridosis tipo IV como causa de talla baja patológica: reporte de un caso y revisión de la literatura

, 2008
We report a case of Morquio syndrome, or mucopolysaccharidosis type IV, in a girl of 5 years attending the pediatric endocrinology service at the Pablo Tobón Uribe Hospital, because of short stature and skeletal deformities that began in the first year ...
López Ramírez, Luz Stella, Velásquez Urzola, Alejandro, Abad, Verónica, Espinal, David   +3 more
core  

Mucopolisacaridosis tipo IV como causa de talla baja patológica: reporte de un caso y revisión de la literatura

, 2009
Se presenta un caso clínico de síndrome de Morquio o mucopolisacaridosis tipo IV, en una niña de 5 años que consulta al servicio de endocrinología pediátrica del Hospital Pablo Tabón Uribe, por talla baja y deformidades esqueléticas que iniciaron al año ...
López Ramírez, Luz Stella, Velásquez Urzola, Alejandro, Abad, Verónica, Espinal, David   +3 more
core  

Dental Health in Pediatric Patients With Different Types of Mucopolysaccharidosis: Retrospective Cross-Sectional Study. [PDF]

JMIR Pediatr Parent
Wang M, Liu R, Xia T, Wang Y.
europepmc   +1 more source

Mucopolysaccharidosis type IV as a cause of mitral stenosis in an adult. [PDF]

Heart, 1981
M A, Ireland, D B, Rowlands
openaire   +2 more sources

Advances in Therapeutic Options for Pulmonary and Sleep Disorders in Mucopolysaccharidosis (MPS) Patients: A Narrative Review. [PDF]

Adv Respir Med
Akpa B.
europepmc   +1 more source

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with <i>SGSH</i> and <i>GALNS</i> Deficiencies. [PDF]

Genes (Basel)
Awan FN, Zulfiqar S, Eiman L, Asif M, Hussain MS, Dahl N, Baig SM, Oda H.   +7 more
europepmc   +1 more source

Ultrasound-guided one-point puncture lumbosacral plexus block combined with laryngeal mask airway general anesthesia for thigh amputation in a patient with mucopolysaccharidosis: a case report. [PDF]

Front Med (Lausanne)
Gao S, Dong J, Gao C, Zhao X.
europepmc   +1 more source

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension. [PDF]

JIMD Rep
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.   +14 more
europepmc   +1 more source

Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases. [PDF]

Head Face Med
Çoğulu D, Uçar SK, Canda E, Atila EK, Alpöz AR, Çoker M.   +5 more
europepmc   +1 more source

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel. [PDF]

Mol Genet Metab
Lacaria M, Goldstein JL, Aschoff C, Brown K, Deshpande D, Chen-Deutsch X, Ellinwood M, Farman MR, Mendez R, Louis IV, Prout J, Roark K, Selvanathan A, Stafford A, Fernandez R, Ratzsch AC, Weaver M, Bali D, Donti T, Lund T, Pollard L, Vairo FPE, Wood T, Rehder C, Clarke L.   +24 more
europepmc   +1 more source