Results 151 to 160 of about 1,451,354 (224)

Colistin-Induced Bartter-Like Syndrome With Torsades de Pointes: A Reversible Cause of Life-Threatening Arrhythmia. [PDF]

JACC Case Rep
Aggarwal A, Kumar D, Agrawal C, Gupta P, Bansal S, Gupta A.   +5 more
europepmc   +1 more source

Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series. [PDF]

JAAD Case Rep
Fialová J, Kojanová M, Šáhó R, Magner M.   +3 more
europepmc   +1 more source

Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI. [PDF]

PLoS One
Gilger BC, Song L, Hasegawa T, Salmon JH, Bower JJ, Vridhachalam N, Collins E, Roberts D, Bagel J, Molony C, Vite C, Hirsch ML.   +11 more
europepmc   +1 more source

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source

[Morquio's syndrome--mucopolysaccharidosis type IV (clinical-genealogic study)].

Ortopediia travmatologiia i protezirovanie, 1978
M V, Volkov, E M, Meerson, O L, Nechvolodova, G P, Iukina, V Ia, Bruskina   +4 more
openaire   +1 more source

Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort study. [PDF]

Medicine (Baltimore)
Kim I, Sung J, Ahn YJ, Im M, Kim MJ, Park SJ, Cho SY, Cho SY.   +7 more
europepmc   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source

The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023. [PDF]

Diagnostics (Basel)
Tulebayeva A, Mukhambetova G, Sharipova M, Tylki-Szymanska A.   +3 more
europepmc   +1 more source

Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient. [PDF]

Eur Child Adolesc Psychiatry
Cirnigliaro L, Randazzo M, Dardis A, Stroppiano M, Velardita M, Peruzzo P, Scarpa M, Rizzo R, Barone R.   +8 more
europepmc   +1 more source

Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses. [PDF]

Mol Genet Metab Rep
Kaciulyte G, Yorulmaz G, Sharma R, Jones SA, Wynn R, Church H, Tylee K, Bilgin M, Jovanovic A, Woolfson P, Stepien KM.   +10 more
europepmc   +1 more source