Results 71 to 80 of about 4,281 (208)

PRKAG2 ‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
ABSTRACT Nonimmune foetal hydrops is a prenatal condition associated with significant perinatal mortality. It has so far been associated with over 200 chromosomal and monogenic conditions, most frequently chromosomal aneuploidies and RASopathies. Thorough clinical phenotyping and genetic evaluation are essential to determine the underlying etiology of ...
Alexandre M. White‐Brown, Marilyn Richard, Anne‐Maude Morency, Chelsea Maedler‐Kron, Isabelle De Bie   +4 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  

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

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

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  

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

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

FoxO3a overexpression protects skeletal muscle in a mice model of Pompe disease (Glycogenosis type II)

, 2019
FoxO3a overexpression protects skeletal muscle in a mice model of Pompe disease (Glycogenosis type II). .
Lagalice, Lydie, Travert, Ophélie, Ciron, Carine, Fleurisson, Romain, Rouger, Karl, Ayuso, Eduard, Colle, Marie-Anne, Deniaud, Johan, Babarit, Candice, Larcher, Thibaut, Dubreil, Laurence, Pichon, Julien   +11 more
core   +3 more sources

Lectin-Histochemistry: Glycogenosis in Cattle

Veterinary Research Communications, 2006
Ten out of 47 calves that were born in a small Brahman herd from southern Brazil developed progressive muscular weakness and tremors, lethargy and poor body condition. Necropsy was performed on three affected animals. The only gross lesion detected was paleness of the muscles of the trunk and limbs.
Zlotowski, P., Gimeno, Eduardo Juan, Díaz, A., Barros, R., Barros, Severo S., Farias da Cruz, Claudio Estevao, Driemeier, D.   +6 more
openaire   +3 more sources

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