Results 71 to 80 of about 3,882 (211)

Microbial biomarkers differentiating patients with hepatic glycogenosis diseases and healthy controls.

, 2019
Microbial biomarkers differentiating patients with hepatic glycogenosis diseases and healthy controls.
Eric W. Triplett (94318), Priscila Thiago Dobbler (2852063), Carolina Fischinger Moura de Souza (6541835), Luiz Fernando Wurdig Roesch (3727231), Karina Colonetti (5739812), Ida Vanessa Doederlein Schwartz (2852072), Tatiéle Nalin (6541832), Bruna Bento dos Santos (6541829)   +7 more
core   +1 more source

Continuous glucose monitoring in children with glycogenosis

Alʹmanah Kliničeskoj Mediciny, 2017
Rationale: Glycogen storage diseases (GSD, glycogenosis) are a group of hereditary disorders of carbohydrate metabolism that is characterized by excess glycogen accumulation in various organs and tissues due to deficiency or absence of glycogen-splitting
T. V. Strokova, I. V. Prokhorova, A. G. Surkov, M. E. Bagaeva, E. V. Pavlovskaya, N. N. Taran, A. I. Zubovich   +6 more
doaj   +1 more source

Muscle Diseases of Metabolic and Endocrine Derivation

Rheumato
Muscle function and pathology are complex subjects; the medical fields involved in their diagnosis and treatment represent rheumatology, physiatry and metabolic disease, among others.
Bruce Rothschild
doaj   +1 more source

“We Could Hold Our Own Here at Home”: Longitudinal Experience of COVID‐19 Lockdowns in Parents With Children Affected With Interstitial Lung Disease

Pediatric Pulmonology, Volume 60, Issue 1, January 2025.
ABSTRACT The global health emergency of COVID‐19 in early 2020 placed much of the population under quarantine. Interstitial Lung Disease in childhood (chILD) was recommended to be a pediatric clinically extremely vulnerable (CEV) group in April 2020 for shielding due to the unknown health consequences of COVID‐19 in children with chronic respiratory ...
Carlee Gilbert, Andrew Bush, Kate M. Bennett, Christopher Brown   +3 more
wiley   +1 more source

State of the art in muscle glycogenosis

, 2010
The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme.
Angelini C., ANGELINI, CORRADO
core  

Glycogenosis type I

Jornal de Pediatria, 1999
OBJECTIVE: To o present up-to-date knowledge about Glycogen storage disease type I (GSD-type I) - a disease caused by the deposit of glycogen resulting from the deficiency of the enzyme glucose-6- phosphatase - and to provide the pediatricians with the necessary information for a precocious diagnosis and an adequate conduct for those cases where this ...
C V, Reis, F J, Penna, M C, Oliveira, M L, Roquete   +3 more
openaire   +2 more sources

Ketogenic diet treatment in adults with glycogenosis type IIIa (Morbus Cori)

Clinical Nutrition Experimental, 2019
Summary: Background: Glycogen storage disease type IIIa (GSDIIIa) is a defect of the debranching enzyme (amylo-1,6-glucosidase) in glycogenolysis and has an effect on the muscles and the liver.
Tobias Fischer, Helen Njoroge, Ulrike Och, Ira Klawon, Thorsten Marquardt   +4 more
doaj   +1 more source

GENERALISED GLYCOGENOSIS IN BRAHMAN CATTLE

, 1981
Generalised glycogenosis was diagnosed in Brahman cattle on 4 Queensland properties on the basis of clinical observations and pathological and biochemical findings.
Sewell, C.A., B. M. O'Sullivan, R. J. Whittle, Fraser, I.R., O'Sullivan, Brian M., C. A. Sewell, P. J. Healy, I. R. Fraser, R. E. Nieper, Whittle, R.J., Healy, P.J., Nieper, R.E.   +11 more
core   +1 more source

Management and treatment of glycogenosis type 2

, 2008
Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a metabolic disease specialist or biochemical geneticist, cardiologist, pulmonologist, neurologist ...
B. BEMBI, L. MORANDI, A. TOSCANO, A. VIANELLO, S. GASPERINI, O. MUSUMECI, PARENTI, GIANCARLO, E. CERINI, C. DANESINO, S. RAVAGLIA, M. A. DONATI, F. SEIDITA   +11 more
core  

Glycogenosis type IX in a 9-year-old child

, 2017
Since the age of 1 year, a child presented with hypoglycemic conditions accompanied by ketosis as well as periodic hyperglycemia, for which reason he was hospitalized to the Pediatric Endocrinology Department of the Mirotvortsev Saratov Clinical Hospital.
Maria A. Melikyan, Tatyana V. Strokova, Nina V. Bolotova, Natalia Yu. Filina, Andrey P. Averyanov, Yulia V. Paltseva, Ekaterina Yu. Zaharova, Olesya A. Velikotskaya   +7 more
core   +1 more source