Results 131 to 140 of about 21,161 (167)

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings. [PDF]

J Hand Surg Eur Vol
van Binsbergen BAW, van Dongen JA, Vriend L, Goedee SH, van Hasselt PM, Mink van der Molen AB.   +5 more
europepmc   +1 more source

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

Assessment of bone health and bone mineral density in patients with mucopolysaccharidosis receiving enzyme replacement therapy. [PDF]

BMC Pediatr
El Feil NSA, Abuzaid Y, Mobarak A.
europepmc   +1 more source

Delayed diagnosis of mucopolysaccharidosis type I in a patient with spinopelvic instability, short stature, and skeletal dysplasia. [PDF]

JBMR Plus
Windels O, Lindschau M, Boschann F, Oheim R, Muschol N.   +4 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

Merging evans syndrome with mucopolysaccharidosis type II: a case report. [PDF]

Front Pediatr
Wang X, Zhang J, Tang Y, Liu C, Hu P, Yang Y, Chen H.   +6 more
europepmc   +1 more source

Amoxicillin-Induced Drug-Induced Liver Injury Superimposed on Acute Hepatitis C Infection in a Patient With Hurler Syndrome: A Diagnostic Challenge Assessed by the Updated RUCAM. [PDF]

Case Reports Hepatol
Garg A, Seshie P, Chouthai A, Raval S, Santharaman A, Manzoor A, Broder A.   +6 more
europepmc   +1 more source

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

JAMA Netw Open
Sakaguchi H, Kosuga M, So T, Gocho Y, Ono S, Yasue S, Mizuno S, Minato S, Higuchi T, Kim Y, Sekiguchi M, Yamada M, Deguchi T, Ogiwara H, Kurosawa K, Okuyama T, Iguchi A, Tomizawa D, Matsumoto K.   +18 more
europepmc   +1 more source

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I. [PDF]

J Inherit Metab Dis
Donnelley M, Smith R, Cmielewski P, Reyne N, Pirakalathanan P, Eikelis N, Nilsen K, Louise J, Barratt K, Logan J, Ung B, Parsons D, Brooks D, Orgeig S, Parkinson-Lawrence E.   +14 more
europepmc   +1 more source

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