Results 71 to 80 of about 247 (109)

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

J Sport Health Sci
Valenzuela PL, Santalla A, Alejo LB, Merlo A, Bustos A, Castellote-Bellés L, Ferrer-Costa R, Maffiuletti NA, Barranco-Gil D, Pinós T, Lucia A.   +10 more
europepmc   +1 more source

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

Front Pediatr
Reyes-Apodaca M, Consuelo-Sánchez A, Vázquez-Frias R, Rodríguez-Espino BA, Medeiros M.   +4 more
europepmc   +1 more source

Nutrición en enfermedades metabólicas de hidratos de carbono : glucogenosis.

, 2015
Código de proyecto: GNH 14107Ana María Charro Gamallo; director del proyecto: Cristina Martínez Roldán.Curso 2014-2015Grado en Nutrición Humana y Dietética (GNH)Facultad de Ciencias de la ...
Charro Gamallo, Ana María
core  

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

Nucleic Acids Res
Ramos-Hernández I, Fuster-García C, Aguilar-González A, Lozano-Vinagre ML, Guenechea-Amurrio G, Sanchez-Luque FJ, Gonçalves MAFV, Cathomen T, Muñoz P, Molina-Estévez FJ, Martín F.   +10 more
europepmc   +1 more source

Effect of glucose on alpha-glucan degradation in Polyporus circinatus. [PDF]

J Bacteriol, 1981
Oliveira MB, Zancan GT.
europepmc   +1 more source

ENFERMEDAD DE POMPE: ¿ENFERMEDAD RARA O SUBDIAGNOSTICADA?

, 2015
La glucogenosis tipo II o enfermedad de Pompe, corresponde al grupo de entidades de depósito lisosomal, en la cual hay una deficiencia de la enzima alfa glucosidasa ácida, resultando en acúmulos de glucógeno en diferentes sistemas dentro de los cuales ...
CASTRILLÓN CASTRILLÓN, DIANA PAOLA, VELASCO BENÍTEZ, CARLOS ALBERTO, NARANJO, MARIA MERCEDES   +2 more
core  

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

Rev Med Inst Mex Seguro Soc
Flores-Gonzale A, Herrera-Del Valle LE, Lara-Ramírez VR, Marco-Valdez I, Torres-Pedroza AJ, Briceño-Rodas KJ.   +5 more
europepmc   +1 more source

The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition. [PDF]

EMBO J, 1997
Lowe ED, Noble ME, Skamnaki VT, Oikonomakos NG, Owen DJ, Johnson LN.   +5 more
europepmc   +1 more source

Aplicación de la secuenciación masiva de dna al diagnóstico de los defectos congénitos de glicosilación y de glucogenosis

, 2017
Up to now, genetic analysis of human inherited diseases is based on gene-by-gene Sanger sequencing. In locus-heterogeneous disorders, genes are sequenced according to their population frequency after performing time-consuming cellular and/or biochemical assays in an attempt to reduce to a single or a small group of candidate genes to be analyzed.
openaire   +1 more source

Histologic diagnosis of glucogenosis type IV (amylopectinosis)

, 1974
K. Brass
core   +1 more source