Results 81 to 90 of about 604 (121)

Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. [PDF]

open access: yesMedicine (Baltimore), 2018
Ley-Martos M   +9 more
europepmc   +1 more source

Integral kidney function assessment in pediatric patients with glycogen storage diseases. [PDF]

open access: yesFront Pediatr
Reyes-Apodaca M   +4 more
europepmc   +1 more source

Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease. [PDF]

open access: yesJ Sport Health Sci
Valenzuela PL   +10 more
europepmc   +1 more source

Donor insertion into CX3CR1 allows epigenetic modulation of a constitutive promoter on hematopoietic stem cells and its activation upon myeloid differentiation. [PDF]

open access: yesNucleic Acids Res
Ramos-Hernández I   +10 more
europepmc   +1 more source

[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo]. [PDF]

open access: yesRev Med Inst Mex Seguro Soc
Flores-Gonzale A   +5 more
europepmc   +1 more source

Hepatoblastoma descubierto intraútero. Aspectos clínicos, evolutivos y su diagnóstico por medio de la imagen. A propósito de un caso [PDF]

open access: yes, 1991
Canet Ribas de Pina, Ramon   +6 more
core  

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