Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies
نویسندگان
چکیده
منابع مشابه
Glycogen storage disease 1a with piebaldism.
A 3 and half years old male child born by consanguineous marriage presented with white forelock and symmetric hypopigmented areas present since birth, similar to his mother and elder sister. Hepatomegaly was noticed at one year of age. Liver biopsy revealed enlarged pale hepatocytes distended with glycogen. Skin biopsy revealed absence of melanin pigment in white depigmented skin. G727T gene ...
متن کاملGlycogen storage disease type I: clinical and laboratory profile.
OBJECTIVES To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were...
متن کاملGlycogen storage disease (type-III).
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
متن کاملType V glycogen storage disease.
We describe three children with type V glycogen storage disease, who were reluctant to climb hills. We suggest that this condition, usually described as being of adult onset, can often be diagnosed in childhood.
متن کاملEvaluation of central nervous system in patients with glycogen storage disease type 1a.
We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and p...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1997
ISSN: 0148-7299,1096-8628
DOI: 10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p