Results 141 to 150 of about 2,839 (212)

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey. [PDF]

Orphanet J Rare Dis
Muenzer J, Amartino H, Giugliani R, Harmatz P, Lin SP, Link B, Molter D, Ramaswami U, Scarpa M, Botha J, Audi J, Burton BK.   +11 more
europepmc   +1 more source

Molecular genetics of Hunter syndrome: Mutation characterization, carrier detection, and parental origin of mutation. [PDF]

, 2000
Bellows, Amy Bennett
core   +1 more source

Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage. [PDF]

Hum Gene Ther
Catalano F, Vlaar EC, Dammou Z, Katsavelis D, Huizer TF, Zundo G, Hoogeveen-Westerveld M, Oussoren E, van den Hout HJMP, Schaaf G, Pike-Overzet K, Staal FJT, van der Ploeg AT, Pijnappel WWMP.   +13 more
europepmc   +1 more source

Radiographic assessment of mucopolysaccharidoses: A pictorial review. [PDF]

World J Clin Pediatr
Teixeira de Castro Gonçalves Ortega AC, Amorim Moreira Alves G, Perera Molligoda Arachchige AS.   +2 more
europepmc   +1 more source

A Rare Case of Late Infantile Form of Multiple Sulfatase Deficiency. [PDF]

Indian Dermatol Online J
Lakum MP, Padhiyar JK, Patel NH, Patel KA.   +3 more
europepmc   +1 more source

A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II. [PDF]

Int J Neonatal Screen
Ayodele O, Fertek D, Evuarherhe O, Siffel C, Audi J, Yee KS, Burton BK.   +6 more
europepmc   +1 more source

Nanoparticle-Mediated Targeted Drug Delivery Systems. [PDF]

Pharmaceutics
Tashima T, Tournier N.
europepmc   +1 more source

Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. [PDF]

Orphanet J Rare Dis
Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH.   +4 more
europepmc   +1 more source

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders. [PDF]

Genes (Basel)
Urizar E, McCarron EP, Gadepalli C, Bentley A, Woolfson P, Lin S, Iosifidis C, Browning AC, Bassett J, Senarathne UD, Indika NR, Church HJ, Cooper JA, Menendez Lorenzo J, Farrugia ME, Jones SA, Black GC, Stepien KM.   +17 more
europepmc   +1 more source

Mucopolysaccharidoses: A biochemical study under limited resources. [PDF]

Mol Genet Metab Rep
Bouzid F, El Fissi H, Karim K, Sebbar MS, Jabir B, Chuis N, Msanda F, Alif N.   +7 more
europepmc   +1 more source