Results 101 to 110 of about 5,240 (183)

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

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

Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA). [PDF]

ACS Omega
Priya M, Vasudev V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source

The application of enzyme replacement therapy in vitro and in a mouse model in aspartylglycosaminuria [PDF]

Dunder, Ulla
core  

A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis. [PDF]

Surg Neurol Int
Hashimoto J, Kawasaki T, Kobayashi T, Ioroi Y, Takayama M.   +4 more
europepmc   +1 more source

Retinal microstructual and microvascular changes in mucopolysaccharidoses. [PDF]

Graefes Arch Clin Exp Ophthalmol
Wipprecht L, Borchers AJ, Stingl JV, Schmitz LS, von Plettenberg K, Hennermann JB, Hopf S, Pitz S, Matlach J.   +8 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

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 more
europepmc   +1 more source

Mucopolysaccharidosis Types IV and VI.

Indian pediatrics, 2002
openaire   +1 more source

The first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature. [PDF]

BMC Neurol
Wang Y, Zhou W, Du C, Tang Y, Zhu K.
europepmc   +1 more source