Pompe's disease or type IIa glycogenosis

Pompe's disease or type IIa glycogenosis

This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left vent...

Full description

Bibliographic Details
Main Authors:	José Luiz Balthazar Jacob, Rosiene Lisboa Leandro, Adelino Parro Jr
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Cardiologia (SBC) 1999-11-01
Series:	Arquivos Brasileiros de Cardiologia
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004

Similar Items

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II)
by: Lydie Lagalice, et al.
Published: (2018-10-01)

ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I
by: Natália Bauab Jorge, et al.
Published: (2021-02-01)

Hepatic glycogenosis: a diagnostic challenge
by: Diana Horta, et al.

Continuous glucose monitoring in children with glycogenosis
by: T. V. Strokova, et al.
Published: (2017-02-01)

Ketogenic diet treatment in adults with glycogenosis type IIIa (Morbus Cori)
by: Tobias Fischer, et al.
Published: (2019-12-01)

CHARACTERISTICS OF THE HEPATIC MORPHOLOGICAL CHANGES IN CHILDREN WITH GLYCOGENOSIS
by: A. N. Surkov, et al.
Published: (2013-12-01)

GLYCOGENOSIS IN CHILDREN: MODERN ASPECTS (PART I)
by: A. N. Surkov
Published: (2012-03-01)

IXa glycogenosis – diagnosis, features of clinical manifestations and treatment
by: M. I. Yablonskaya, et al.
Published: (2018-04-01)

Cardiac arrest as a manifestation of unknown Type V glycogenosis: a case report
by: Raquel Soria‐Navarro, et al.
Published: (2022-10-01)

Mauriac Syndrome: A Rare Hepatic Glycogenosis in Poorly Controlled Type 1 Diabetes
by: Marta Patita, et al.
Published: (2019-01-01)

Pulmonary interstitial glycogenosis in two neonates: Early recognition and use of corticosteroids
by: Eric Hamberger, et al.
Published: (2024-01-01)

CARBOHYDRATE METABOLISM DISORDERS IN CHILDREN: HYPOGLICEMIA, HYPERGLICEMIA, GLYCOGENOSIS, AGLYCOGENOSIS, HEXOSEMIA
by: Peter F. Litvitsky, et al.
Published: (2017-11-01)

Muscle biopsy in Pompe disease Biópsia muscular na doença de Pompe
by: Lineu Cesar Werneck, et al.
Published: (2013-05-01)

Characteristics of Pompe disease in China: a report from the Pompe registry
by: Yuying Zhao, et al.
Published: (2019-04-01)

Glycogen storage disease type II (Pompe disease) in children
by: A. N. Semyachkina, et al.
Published: (2016-03-01)

Trombose de prótese biológica mitral: importância do ecocardiograma transesofágico no diagnóstico e acompanhamento pós-tratamento
by: Adelino Parro Jr, et al.
Published: (2004-04-01)

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis
by: Varun Aggarwal, et al.
Published: (2015-01-01)

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone
by: Massimiliano Filosto, et al.
Published: (2019-02-01)

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis
by: Zhi-yuan Chen, et al.
Published: (2018-11-01)

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
by: Latifa Chkioua, et al.
Published: (2023-04-01)

Persistent hyperlactatemia in decompensated type I diabetes with hepatic glycogenosis and hepatomegaly: Mauriac syndrome: a case report
by: Waheed Dolip, et al.
Published: (2022-06-01)

Newborn Screening for Pompe Disease
by: Takaaki Sawada, et al.
Published: (2020-04-01)

X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
by: Szu-Ta Chen, et al.
Published: (2009-10-01)

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2
by: Mariasofia Cotelli, et al.
Published: (2014-01-01)

Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
by: M. Christine Dorley, et al.
Published: (2023-02-01)

Gene Therapy Developments for Pompe Disease
by: Zeenath Unnisa, et al.
Published: (2022-01-01)

Pharmacological Chaperone Therapy for Pompe Disease
by: Marc Borie-Guichot, et al.
Published: (2021-11-01)

Precocious puberty in patients with Pompe disease
by: Meng-Ju Melody Tsai, et al.
Published: (2023-08-01)

Pompe disease: further challenges to pursue
by: Suely Kazue Nagahashi Marie
Published: (2013-05-01)

Development of Newborn Screening for Pompe Disease
by: Wuh-Liang Hwu, et al.
Published: (2020-01-01)

Hypothyroidism in late-onset Pompe disease
by: Joseph Schneider, et al.
Published: (2016-09-01)

Pain in adult patients with Pompe disease
by: N. Karabul, et al.
Published: (2014-01-01)

Pompe disease and ophthalmopathy: literature review
by: Tuy Nga Brignol, et al.
Published: (2015-05-01)

A case of Pompe disease in infant
by: E. F. Sudorgina, et al.
Published: (2015-02-01)

Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate “Diseased” Hepatocytes for Accurate Diagnosis
by: Guillem Garcia-Llorens, et al.
Published: (2022-07-01)

Pompe disease: further challenges to pursue Doença de Pompe: novos desafios a serem conquistados
by: Suely Kazue Nagahashi Marie
Published: (2013-05-01)

Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil
by: Bruna de Souza Sixel, et al.

Mauriac syndrome or hepatic glycogenosis: A rare complication of unbalanced diabetes (about two clinical cases)
by: M'harzi Soulaimane, et al.
Published: (2022-06-01)

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report
by: D. Allegrini, et al.
Published: (2017-06-01)

Pompe disease in China: clinical and molecular characteristics
by: Jing Li, et al.
Published: (2023-12-01)