Results 51 to 60 of about 3,882 (211)

Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus

European Journal of Case Reports in Internal Medicine, 2018
Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly.
Maria João Rodrigues Ferreira Pinto, Nuno Melo, Luís Flores, Francisco Cunha   +3 more
doaj   +1 more source

Early Detection of Treatment Response to Mavacamten in Hypertrophic Obstructive Cardiomyopathy With Severe Mitral Regurgitation Using Magnetocardiography

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Recent evidence highlights the efficacy of mavacamten in reducing left ventricular outflow tract (LVOT) gradients in patients with hypertrophic cardiomyopathy (HCM), which is illustrated in this case. Additionally, the potential of magnetocardiography (MCG) as a novel, objective diagnostic and monitoring tool for nonischemic cardiomyopathies ...
Phillip Suwalski, Gamze Satilmis, Markus Reinthaler, Ulf Landmesser, Bettina Heidecker   +4 more
wiley   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source

Hepatomegaly and abnormal liver tests due to glycogenosis in adults with diabetes

, 2019
In adults with diabetes mellitus, hepatomegaly and abnormalities of liver enzymes occur as a consequence of hepatocellular glycogen accumulation, as has been well described in children.
Chatila, Rajaa, West, Brian A.
core   +1 more source

Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease

Педиатрическая фармакология
Glycogen 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, Madlena E. Bagaeva, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Nataliya V. Zhurkova, Elena V. Kaitukova, Elena V. Komarova, Tea V. Margieva, Leyla S. Namazova-Baranova, Valeria P. Novikova, Elena E. Petryaykina, Mariya M. Platonova, Aleksander S. Potapov, Olga Ya. Smirnova, Tatiana V. Strokova, Andrey N. Surkov, Nataliya N. Taran, Marina V. Fedoseenko, Nataliya A. Semenova, Inga V. Anisimova, Svetlana A. Repina, Dmitriy M. Subbotin, Valeria V. Sviridova, Anatoliy I. Havkin, Ekaterina A. Yablokova, Galina V. Volynets, Irina V. Sadovnikova, Elena L. Tumanova   +29 more
doaj   +1 more source

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis

, 2008
Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage with exertion.
Akman, Hasan O., Wade, Claire, Valberg, Stephanie J., McCue, Molly E., Miller, Michael B., DiMauro, Salvatore, Mickelson, James R.   +6 more
core   +1 more source

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia

JIMD Reports, Volume 66, Issue 4, July 2025.
ABSTRACT Little is known about pregnancies and placental changes in women with glycogen storage disease type Ia (GSD Ia). We report on two primipara with GSD Ia who both developed preeclampsia and whose newborns were small for gestational age. Both placentas showed sonomorphological and macroscopical abnormalities.
V. Laufs, A. Hasenburg, M. A. Busch, F. Lang, D. Macchiella, E. Mildenberger, L. Seidmann, J. B. Hennermann   +7 more
wiley   +1 more source

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years [PDF]

, 2011
The objective of this study was to describe a large Italian cohort of patients with late-onset glycogen storage disease type 2 (GSDII) at various stages of disease progression and to evaluate the clinical effectiveness of alglucosidase alpha enzyme ...
Servidei, Serenella, Pegoraro E., Bembi B., Tonin P., Angelini C, Filosto, M., Bembi, B, Donati M. A., Moggio, M, Ermani M., Gasperini S, Ravaglia S, Ermani M, E. Pegoraro, Sette E, Toscano, A., M. Ermani, Greco, G, Filosto M., Tugnoli V, Morandi, L, S. Ravaglia, F. Carubbi, Parini, R, Mongini T, Lucchini V, C. Semplicini, Barca E, Mongini, T, Parini R, Musumeci O, Carubbi, F., G. Di Iorio, Servidei S., T. Mongini, CARUBBI, Francesca, null null, Musumeci, O, PEGORARO, ELENA, Servidei S, Servidei, S, Semplicini, C, Parini R., G. Siciliano, Mongini T., O. Musumeci, SICILIANO, GABRIELE, Angelini, C., Diodato D, Di Iorio G., Toscano A., A. Toscano, Morandi L., Piras R, Moggio M., di Giacopo R, Marrosu, G, Pegoraro, E., G. Marrosu, Siciliano, G, Filosto, M, Sette, E., Siciliano, G., Donati, M. A, Ermani, M., Sette, E, Greco G, Ariatti A, Ricci G, Greco G., R. Parini, Di Iorio G, G. Greco, Angelini, C, M. A. Donati, Morandi L, Ravaglia, S., S. Servidei, RICCI, GIULIA, Giannini F, Carubbi F, Donati MA, Crescimanno, G., Siciliano G, Angelini C1, Tonin, P, C. Angelini, Angelini C., G. Crescimanno, Di Iorio, G., Vercelli L, Marrosu, G., E. Sette, Musumeci O., Semplicini C, DI IORIO, Giuseppe, Tonin, P., Crescimanno, G, Pegoraro E, Ermani, M, Crescimanno G, SEMPLICINI, CLAUDIO, M. Moggio, Toscano A, Bembi, B., ERMANI, MARIO, Marrosu G, Rigoldi M, Sette E., Siciliano G., Crescimanno G., Filosto M, Italian GSDII Group, Ravaglia S., Semplicini C., Moggio M, Ravaglia, S, Anna S, Musumeci, O., Morandi, L., Di Iorio, G, B. Bembi, The Italian GSDII Group, Moggio, M., Emilia R., M. Filosto, Italian GSDII Group,, Pegoraro, E, Pasanisi M, Comi G, Donati, M. A., Marrosu G., Bembi B, Parini, R., Mongini, T., Carubbi F., Servidei, S., TONIN, PAOLA, L. Morandi, Tonin P, Greco, Giuseppe, Giannini, Fabio, P. Tonin   +142 more
core   +1 more source

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

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, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

The benefits of liver transplantation in glycogenosis type Ib

, 2004
There are few reports of liver transplantation in glycogenosis type Ib (GSD Ib). We present two cases who had dramatic catch-up growth and reduced infections after transplantation, despite persistent ...
J. H. Walter, Walter, J H, Bhattacharya, K, Rela, M, Heaton, N, Lee, P J, K. Bhattacharya, P. J. Lee, N. Heaton, M. Rela   +9 more
core   +1 more source