Results 161 to 170 of about 5,048,722 (239)

Overcoming the barriers to diagnosis of Morquio A syndrome [PDF]

, 2014
Adeline Tan, Akemi Tanaka, Albert D Yang, Anita Inwood, Antony Fu, Dong Kyu Jin, Hasri Samion, Hsiang-Yu Lin, Jim McGill, Kaustuv Bhattacharya, Michael Fietz, Motomichi Kosuga, Nancy J Mendelsohn, Ok-Hwa Kim, Shanti Balasubramaniam, Shuan-Pei Lin, Teck-Hock Toh, Torayuki Okuyama, Verasak Thamkunanon, Yew Sing Choy, Young Hee Kwun   +20 more
core   +1 more source

Mucopolysaccharidosis II (Hunter's syndrome)

International Bulletin of Otorhinolaryngology, 2019
openaire   +2 more sources

Mucopolysaccharidosis Type II—An Unexpected “3 in 1” Family

Pediatrics and Neonatology, 2016
Hsiang-Yu Lin
doaj   +1 more source

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. [PDF]

Orphanet J Rare Dis, 2016
Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP.   +15 more
europepmc   +1 more source

Sequencing the Genome of the Domestic Cat Felis catus [PDF]

, 2002
Giger, Urs, Haskins, M. E., Lander, Eric S., Menotti-Raymond, Marilyn, Murphy, William J., O\u27Brien, Stephen J., Pederson, Niels C., Wildt, David E., Yuhki, Naoya   +8 more
core   +1 more source

Diagnostic utility of ultra-microangiography and shear wave elastography in pediatric carpal tunnel syndrome associated with mucopolysaccharidosis. [PDF]

Pediatr Radiol
Seher N, Yılmaz BK, Kahraman AB, Dilek İ, Gümüs H, Öztürk M.   +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

Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study. [PDF]

Neurol Int
Wiertel-Krawczuk A, Krawczuk Z, Huber J.
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

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses. [PDF]

Biochem Biophys Rep
Oboshi W, Hirakiyama A, Miura M, Omachi H, Tanaka M, Seo JH, Ohtake A, Osawa Y, Ishige M, Kosuga M, Munenaga T, Migita O, Nyuzuki H, Sasai H, Fukuda T, Sano S, Ito T, Bo R, Takeshima Y, Esaki H, Inoue T, Nagamitsu S, Watanabe Y, Nakamura K, Sawada H, Maruyama S, Murayama K, Okuyama T.   +27 more
europepmc   +1 more source