Results 101 to 110 of about 15,739 (180)

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. [PDF]

Int J Neonatal Screen
Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K.   +6 more
europepmc   +1 more source

Mucopolysaccharidosis

, 2021
openaire   +1 more source

Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis. [PDF]

Mol Genet Metab Rep
Lusk EN, Percival KA, Weber CA, Prohofsky R, Minett MM, Snow EL.   +5 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

Utility and applications of high-resolution anterior segment optical coherence tomography in unraveling the diagnosis of isolated bilateral corneal haze in children. [PDF]

Indian J Ophthalmol
Chaurasia S, Ramappa M.
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

RPE Abnormality Is a Potential Primary Cause for Retinal Degeneration in Mucopolysaccharidosis Type VI Patients and a Rat Model. [PDF]

Invest Ophthalmol Vis Sci
Sho J, Nakamura N, Onishi A, Watanabe M, Sakai D, Hirami Y, Mandai M, Kurimoto Y, Takahashi M, Maeda A.   +9 more
europepmc   +1 more source

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes. [PDF]

Vet Med Sci
Kakalar ME, Dezhban FF, Zamani A, Razlighi SS.   +3 more
europepmc   +1 more source

Mucopolysaccharidosis

Tzu Chi Medical Journal, 2011
openaire   +1 more source

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]

Diseases
Montenegro YHA, Alves MFA, Santos-Lopes SSD, Souza CFM, Poswar FO, Brusius-Facchin AC, Bender-Pasetto F, Michelin-Tirelli K, Sebastião FM, Trapp FB, Ribeiro EM, Medeiros PFV, Kim CA, Embiraçu EK, Riegel-Giugliani M, Baldo G, Giugliani R.   +16 more
europepmc   +1 more source