Results 81 to 90 of about 8,846 (292)
Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease
Педиатрическая фармакологияGlycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen.
Natalia A. Averkina +29 more
doaj +1 more source
Pediatric Pulmonology, Volume 60, Issue 4, April 2025.ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss +23 more
wiley +1 more source
Type I glycogenosis with renal tubular dysfunction (presentation of two cases)
The Turkish Journal of Pediatrics, 1993 Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch.
A Yüce +5 more
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Molecular Genetics and Metabolism Reports, 2020 The rs2229611 SNP (G6PC:c.*23T>C) in the 3’UTR region of the G6PC gene affects the stability of the glucose-6-phosphatase mRNA and occurs in a higher frequency in patients with glycogenosis Ia (GSD Ia) in some populations.
Franciele Cabral Pinheiro +5 more
doaj +1 more source
Clinical guidelines for late-onset Pompe disease [PDF]
, 2012 English version available at www.neurologia.comHasta 2006, la enfermedad de Pompe o glucogenosis tipo II era una enfermedad incurable y con tratamiento meramente paliativo.
Barba-Romero, Miguel A. +12 more
core +1 more source
Pediatric Pulmonology 2024 Year in Review: Rare and Diffuse Lung Disease
Pediatric Pulmonology, Volume 60, Issue 4, April 2025.ABSTRACT The field of pediatric rare and diffuse lung diseases continues to advance, with ongoing research deepening our understanding of the diagnosis and treatment of conditions such as children's interstitial and diffuse lung disease (chILD), non‐cystic fibrosis (CF) bronchiectasis, and pulmonary complications of childhood cancer.
Pi Chun Cheng +3 more
wiley +1 more source
Hepatic glycogenosis: An underdiagnosed complication of diabetes mellitus?
World Journal of Diabetes, 2015 Hepatic glycogenosis (HG) is characterized by excessive glycogen accumulation in hepatocytes and represents a hepatic complication of diabetes that particularly occurs in patients with longstanding poorly controlled type 1 diabetes (T1D).
M. Julián +5 more
semanticscholar +1 more source
Pompe's disease or type IIa glycogenosis
Arquivos Brasileiros de Cardiologia, 1999 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
José Luiz Balthazar Jacob +2 more
doaj +1 more source
Hypoglossal Neuropathology and Respiratory Activity in Pompe Mice [PDF]
, 2011 Pompe disease is a lysosomal storage disorder associated with systemic deficiency of acid α-glucosidase (GAA). Respiratory-related problems in Pompe disease include hypoventilation and upper airway dysfunction.
Kun-Ze Lee +8 more
core +2 more sources
Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth [PDF]
, 2018 Two originally prepubertal girls suffering from glycogen storage disease type Ia and short stature were treated with low-dose diazoxide (3-4.8 mg/kg per day) for 7 and 4 years, respectively.
Mullis, P., Nuoffer, J., Wiesmann, U.
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