Results 151 to 160 of about 15,504 (206)

GM1 gangliosidosis, type II.

Indian pediatrics, 1982
Z M, Patel, S S, Iyer, L M, Ambani, R H, Suchak, R P, Aggarwal   +4 more
openaire   +1 more source

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes. [PDF]

Int J Mol Sci
Pascual A, Moulka T, de Fàbregues O, Repossi R, García-Ruiz PJ, Ortolano S, De Lucca M, Vela-Desojo L, Alves-Villar M, Frías M, Feliz-Feliz C, Roldán M, Olival J, Fernàndez G, Palau F, Pijuan J, Hoenicka J.   +16 more
europepmc   +1 more source

Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview. [PDF]

Biomolecules
Lipiński P, Różdżyńska-Świątkowska A, Wiśniewska K, Rusecka J, Ługowska A, Żuber Z, Jezela-Stanek A, Cyske Z, Gaffke L, Pierzynowska K, Węgrzyn G, Tylki-Szymańska A.   +11 more
europepmc   +1 more source

I-cell病由来の培養皮膚線維芽細胞のSucrose負荷による正常化 [PDF]

カトウ, トモチカ, 加藤, 伴親
core  

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis. [PDF]

Front Genet
Zagaynova VA, Nasykhova YA, Tonyan ZN, Danilova MM, Dvoynova NM, Lazareva TE, Ivashchenko TE, Shabanova ES, Krikheli IO, Lesik EA, Bespalova ON, Kogan IY, Glotov AS.   +12 more
europepmc   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report. [PDF]

Front Pediatr
Kamalova A, Rakhmaeva R, Sageeva G, Safiullina R, Raimova A, Gaichik E, Nasr D, Gobarah AA, Arafat A.   +8 more
europepmc   +1 more source

Overcoming barriers to commercially pre-viable gene and cell therapies for rare and ultra-rare diseases. [PDF]

Mol Ther
Barrett D, Cannon PM, Mingozzi F, Porteus M, Rivière I, Flotte TR.   +5 more
europepmc   +1 more source

Long-standing macular cherry red spot - A case series and review of literature.

Oman J Ophthalmol
Agarwal D, Temkar S, Shah A, Deb AK, Ramachandar H, Sahi AA.   +5 more
europepmc   +1 more source

The Critical Role of Vitamin D Supplementation for Skeletal and Neurodevelopmental Outcomes in Preterm Neonates. [PDF]

Nutrients
Leonardi R, Mattia C, Decembrino N, Polizzi A, Ruggieri M, Betta P.   +5 more
europepmc   +1 more source