Results 241 to 250 of about 5,063,966 (287)

The Utilization of Dental Services Among Indonesian Youth: A Nationwide Study Based on the Expanded Andersen Behavioral Model. [PDF]

open access: yesInt Dent J
Novrinda H   +6 more
europepmc   +1 more source

A juvenile variant of glycogenosis IV (Andersen disease)

European Journal of Pediatrics, 1986
An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.
F Carneiro
exaly   +3 more sources

An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd

Neuromuscular Disorders, 2020
A 25-year-old male patient presented with periodic paralysis that increased in severity and frequency with age, accompanied with muscle pain and significantly elevated creatine kinase (CK) levels. Initial clinical and genetic examination confirmed Andersen-Tawil syndrome.
Shougang Guo
exaly   +3 more sources

Ventricular bigeminy characterization in 24-h Holter monitoring from Andersen-Tawil patients: An initial proof of concept versus patients with ischemic heart disease

Journal of Electrocardiology, 2023
To characterize ventricular bigeminy from 24-h Holter recordings of Andersen-Tawil syndrome (ATS) patients, a first comparison with a large database of post-myocardial infarction (post-MI) patients with frequent premature ventricular complexes (PVC) was performed.Baseline Holter recordings from 6 ATS1 patients and 618 post-MI patients were analyzed to ...
Claudia, Lerma   +3 more
openaire   +2 more sources

Andersen-Tawil Syndrome Associated with Cerebral Cavernoma: Challenge and Diagnostic Delay of a Multisystemic Disease

SciBase Neurology, 2023
Introduction: Andersen-Tawil Syndrome (ATS) is a rare dominantly inherited disorder caused by mutations in the KCNJ2 gene; it presents with cardiac arrhythmias and periodic muscle ...
openaire   +1 more source

Mild hydrops as a feature of Glycogen Storage Disease Type IV (Andersen Disease) confirmed by biopsy and enzymatic activity

Journal of Neonatal-Perinatal Medicine, 2008
Glycogen Storage Disease Type IV (Andersen Disease) is a rare autosomal recessive condition presenting with severe hypotonia and areflexia in all extremities [1]. Survival for this condition has been reported between 0 day and 5 weeks. Most reported cases are of slightly premature children (average gestational age 36 weeks) presenting with hypotonia ...
Shetal Shah   +3 more
openaire   +1 more source

Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease)

Pediatric and Developmental Pathology
Glycogen storage disease type IV (Andersen disease) is caused by a deficiency of the glycogen branching enzyme. We report a case in which liver biopsy played a key role in establishing the diagnosis. A 2-year-old girl presented to our hospital with hepatomegaly. Despite extensive testing, no definitive diagnosis was made, prompting
Ryou Ishikawa   +5 more
openaire   +1 more source

Glycogenosis Type 4, Andersen Disease

2017
This is a rare metabolic disease presenting with various phenotypes, which account for less than 1% of all glycogen storage diseases (GSD).
openaire   +1 more source

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