Results 181 to 190 of about 8,642 (245)

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil). [PDF]

J Community Genet
Cardoso-Dos-Santos AC, Mariath LM, Trapp F, Facchin ACB, Leistner S, Kubaski F, Giugliani R, Schuler-Faccini L, Ribeiro EM.   +8 more
europepmc   +1 more source

[Mucopolysaccharidoses].

Pediatria polska, 1966
openaire   +1 more source

Association of certain biochemical parameters related to bone cycle with genotype in MPS IIIB patients. [PDF]

Turk J Med Sci
Gökkurt S, Peker Eyüboğlu İ, Nur Güzel B, Mihçi E, Özer A, Akkiprik M.   +5 more
europepmc   +1 more source

Cardiomyopathy as indication for pediatric heart transplantation. [PDF]

JHLT Open
Raissadati A, Tolani D, Profita EL.
europepmc   +1 more source

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]

Diseases
Montenegro YHA, Alves MFA, Santos-Lopes SSD, Souza CFM, Poswar FO, Brusius-Facchin AC, Bender-Pasetto F, Michelin-Tirelli K, Sebastião FM, Trapp FB, Ribeiro EM, Medeiros PFV, Kim CA, Embiraçu EK, Riegel-Giugliani M, Baldo G, Giugliani R.   +16 more
europepmc   +1 more source

Mucopolysaccharidoses

, 2010
openaire   +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

Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa. [PDF]

J Vitreoretin Dis
Seela JR, Moon JY, Montezuma SR.
europepmc   +1 more source

A Case of Opsismodysplasia with a Novel <i>INPPL1</i> Variant. [PDF]

Mol Syndromol
Daşar T, Aypar E, Utine GE, Şimşek-Kiper PÖ.   +3 more
europepmc   +1 more source