Results 151 to 160 of about 2,842 (215)

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

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 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

Hematopoietic stem cell gene therapy of neurometabolic lysosomal storage diseases.

Brain Dev
Consiglieri G, Tucci F, Bernardo ME.
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

Nanoparticle-Mediated Targeted Drug Delivery Systems. [PDF]

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

Structural and Functional Integration of Tissue-Nonspecific Alkaline Phosphatase Within the Alkaline Phosphatase Superfamily: Evolutionary Insights and Functional Implications. [PDF]

Metabolites
Imam I, Rautureau GJP, Violot S, Drevet Mulard E, Magne D, Ballut L.   +5 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

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