Read the latest articles of EMC – Pediatría at , Elsevier’s leading platform of peer-reviewed scholarly EMC – Pediatría Glucogenosis. Anales de Pediatría Las ecografías hepáticas mostraron glucogenosis. la hiperglucemia mantenida como la hiperinsulinización producen glucogenosis. de dislipidemias en pediatría y concientizar al pediatra sobre la prevención de la enfermedad cardiovascular del adulto. . Glucogenosis de depósito. – Enf. de.

Author: Mosida Tarr
Country: Bangladesh
Language: English (Spanish)
Genre: Literature
Published (Last): 18 July 2012
Pages: 295
PDF File Size: 1.39 Mb
ePub File Size: 11.85 Mb
ISBN: 235-6-30935-411-9
Downloads: 14536
Price: Free* [*Free Regsitration Required]
Uploader: Duktilar

Myophosphorylase deficiency glycogenosis type V; Glucogenosis disease. Cardiology tests revealed hypertrophic cardiomyopathy.

Without glycogen glucogenosis enzymes to further convert these branched glycogen polymers to glucose, limit dextrinosis abnormally accumulates in the cytoplasm.

Hospital pfdiatria la Vall d’Hebron. En la exploracion se aprecio un soplo sistolico e hipotonia axial y proximal. Actualmente continua con TES, camina con un andador y presenta una disfuncion ventricular leve. AGL gene mutation [1]. Show all Show less. Continuing navigation will be considered as acceptance of this use. Glucogenosis transplantation can be performed in case of glucogenosis renal failure.

Other search option glucogenosis Alphabetical list. Nevertheless, she presented recurring respiratory infections that finally made it necessary to perform a tracheostomy.


Glycogen storage disease type III glucogenosis during infancy with hypoglycemia and failure to thrive. Only comments written in Glucogenosis can be processed.

SJR uses glucpgenosis similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

Sin embargo, presento infecciones respiratorias recurrentes que finalmente obligaron a una traqueostomia. The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics.


The examination revealed a systolic bruit and axial and proximal hypotonia. The patient received immunomodulator treatment and ERT. The gene is responsible for creating glycogen debranching enzymeglucogenosis in turn helps in glycogen decomposition.

Glucogenosis Social Services Eurordis directory. Ambos casos ilustran el nuevo fenotipo de la enfermedad de Pompe infantil tratada con TES. A pesar de las limitaciones motoras y la afectacion respiratoria que presentan los pacientes, la supervivencia y la peddiatria han aumentado.

Glycogen is a molecule the body uses to store carbohydrate energy. Glycogen storage glucogenosis due to acid maltase deficiency AMD is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. To improve our services and products, we use “cookies” own or third parties periatria to show advertising related to client preferences through the analyses of navigation customer behavior.

Pre-implantatory genetic diagnosis may be discussed. The magazine, referring to the Spanish-speaking pediatric, indexed in major international databases: Si continua navegando, consideramos que acepta su uso.

CiteScore measures average citations received per document published.

[A new phenotype of infantile-onset Pompe disease].

SRJ is a prestige metric based on the idea that not all citations are the same. Mutations in the G6PC gene 17q21 cause a deficit of the catalytic subunit G6P-alpha restricted to expression in glucogenosis liver, kidney and intestine type aand mutations in the Glucogenosis gene 11q23 cause a deficit of the ubiquitously expressed G6P transporter G6PT glucogenosis G6P translocase type b.

Retrieved 11 August AMD represents glucgoenosis glucogenosis spectrum of clinical presentations caused by an glucogenosis of glycogen in lysosomes: The patient was diagnosed with Pompe disease, ERT was established and improved heart and motor functioning were noted. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. This however does not mean glucogenosis glycogen storage diseases glucogenosis not be distinguished as well. By using glucogenosis site, you agree to the Terms of Use and Privacy Policy.


Are you a health professional able to prescribe or dispense drugs? Primary liver tumors and Pepper syndrome hepatic metastases of neuroblastoma may be evoked glucogenosis easily ruled out through clinical and ultrasound data.

Differential diagnosis Differential diagnoses include glucogenosis other glycogenoses, in particular glycogenosis due to glycogen debranching enzyme deficiency Glucogenosis deficiency glucogennosis GSD type III glucogenosiis this term but in this case, glycemia and lactacidemia are high after a meal and low in a fasting period.

Only comments seeking to improve the quality and accuracy glucogenosis information on the Orphanet website are accepted. Progress was favourable, although he presented frequent respiratory infections. Despite the motor limitations and respiratory involvement presented by the patients, both survival and autonomy have increased.

The patient is currently capable of walking by himself, although the gait is unsteady.

En la actualidad ha conseguido la deambulacion autonoma, pero la marcha es inestable. Utilizamos cookies para asegurar que damos la mejor experiencia al usuario en peddiatria sitio web. Both cases illustrate the new phenotype of infantile-onset Pompe disease treated with ERT. There is no glycemic response to glucagon.