Results 111 to 120 of about 4,281 (208)

Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis.

, 1992
Orthotopic liver transplantation (OLT) has been proposed to treat patients with type IV glycogenosis because of early progressive cirrhosis. Reports have shown absence of disease progression in other organs after OLT and even regression of cardiac ...
Otte, Jean-Bernard, de Barsy, Thierry, de Ville de Goyet, J, Sokal, Etienne, Alberti, D., Van Hoof, François   +5 more
core  

The Transplantation of Pancreatic Islets to Portal Vein: The Influence on Liver Tissue. [PDF]

Int J Mol Sci
Vojtíšková A, Fábryová E, Berková Z, Koblas T, Girman P, Kříž J.   +5 more
europepmc   +1 more source

Bradycardia in a Case of Type 2 Glycogenosis (pompes Disease) Revealing in Early Neonatal-period

, 1990
A case of type Ila glycogenosis presenting in early neonatal period is described. An unusual bradycardia and slow recovery from acute fetal distress were the leading signs.
Jauniaux, E., Vanmaldergem, L., Saurty, D., Loeb, H., Jauniaux, Eric, Haumont, Dominique, Van Maldergem, Lionel, Loeb, Helmut, Haumont, D.   +8 more
core  

New Insights: P.I.G in Preterm Infants With Isolated PDA and Severe Pulmonary Hypertension. [PDF]

Case Rep Pediatr
Fadel NB, Almoli E, de Nanassy J, Mashally S.   +3 more
europepmc   +1 more source

Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management. [PDF]

Heart Fail Rev
Patel U, Gunes E, Chawla A, Ashman K, Taub A, Arakelyan T, Madani A, Patel K, Bui Q, Adler E.   +9 more
europepmc   +1 more source

RNA sequencing resolves a novel noncanonical splice-region variant in <i>PHKA2</i> causing glycogen storage disease type IX α2: a case report. [PDF]

Transl Pediatr
Chen F, He J, Cheng H, Shu S.
europepmc   +1 more source

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

Glycogen storage disease type VII (Tarui disease): a case report presenting a <i>PFKM</i> variant previously described only in canine models. [PDF]

Front Genet
Griffo M, Molitierno N, Napoli L, Ripolone M, Zanotti S, Fortunato F, Tumminello G, Moggio M, Locatelli M, Corti SP, Comi GP, Ronchi D.   +11 more
europepmc   +1 more source

Glycogenosis type XI, a rare association between muscle and skin manifestations - the contribution of proteomics for the understanding of the underlying myopathology. [PDF]

J Neuromuscul Dis
Hentschel A, Lacene E, Brochier G, Boisserie JM, Fromes Y, Romero NB, Roos A, Evangelista T.   +7 more
europepmc   +1 more source

Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial. [PDF]

J Neurol
Martinuzzi A, Musumeci O, Stefan C, Vinante E, Ferrati A, Perillo C, Pesenti N, Toscano A.   +7 more
europepmc   +1 more source