Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3 von Høj, Astrid, Ørngreen, Mette Cathrine, Naume, Marie Mostue, Lund, Allan Meldgaard

Volltext

Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial von Ørngreen, Mette Cathrine, Madsen, Karen Lindhardt, Preisler, Nicolai, Andersen, Grete, Vissing, John, Laforêt, Pascal

Volltext

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria von Nielsen, Maja Risager, Jørgensen, Christine, Ahring, Kirsten, Lund, Allan Meldgaard, Ørngreen, Mette Cathrine

Volltext

Exercise in muscle disorders: what is our current state? von Preisler, Nicolai, Orngreen, Mette Cathrine

Volltext

Low skeletal muscle mass and liver fibrosis in children with cerebral palsy von Naume, Marie Mostue, Jørgensen, Marianne Hørby, Høi-Hansen, Christina Engel, Nielsen, Maja Risager, Born, Alfred Peter, Vissing, John, Borgwardt, Lise, Stærk, Dorte Marianne Rohde, Ørngreen, Mette Cathrine

Volltext

Treatment Opportunities in Patients With Metabolic Myopathies von Ørngreen, Mette Cathrine, Vissing, John

Volltext

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease von Mejdahl Nielsen, Malene, Petersen, Esben Thade, Fenger, Christina Dühring, Ørngreen, Mette Cathrine, Siebner, Hartwig Roman, Boer, Vincent Oltman, Považan, Michal, Lund, Allan, Grønborg, Sabine Weller, Hammer, Trine Bjørg

Volltext

Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis von Naume, Marie Mostue, Jørgensen, Marianne Hørby, Høi‐Hansen, Christina Engel, Born, Alfred Peter, Vissing, John, Borgwardt, Lise, Stærk, Dorte Marianne Rohde, Ørngreen, Mette Cathrine

Volltext

Substrate kinetics in patients with disorders of skeletal muscle metabolism von Ørngreen, Mette Cathrine

Volltext

No effect of bezafibrate in patients with CPTII and VLCAD deficiencies von Ørngreen, Mette Cathrine, Vissing, John, Laforét, Pascal

Volltext

Early postoperative complications were common in non‐ambulant paediatric patients with neuromuscular scoliosis von Naume, Marie Mostue, Møller, Morten H., Høi‐Hansen, Christina E., Born, Alfred P., Brekke, Ghita, Andersen, Thomas B., Dirks, Jesper, Ørngreen, Mette Cathrine

Volltext

Prolonged fasting‐induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II von Ørngreen, Mette Cathrine, Andersen, Annarita G., Eisum, Anne‐Sofie, Hald, Emma J., Raaschou‐Pedersen, Daniel E., Løkken, Nicoline, Høi‐Hansen, Christina E., Vissing, John, Born, Alfred P., Hall, Gerrit

Volltext

Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease) von Ørngreen, Mette Cathrine, Jeppesen, Tina Dysgaard, Taivassalo, Tanja, Hauerslev, Simon, Preisler, Nicolai, Heinicke, Katja, Haller, Ronald G, Vissing, John, van Hall, Gerrit

Volltext

A Prospective Study on the Feasibility and Effect of an Optimized Perioperative Care Protocol in Pediatric Neuromuscular Scoliosis Surgery von Naume, Marie Mostue, Hoei-Hansen, Christina Engel, Born, Alfred Peter, Brekke, Ghita, Høj, Astrid, Nielsen, Maja Risager, Borgwardt, Lise, Vissing, John, Dirks, Jesper, Rye, Anne Kathrine Stæhr, Møller, Morten Hylander, Andersen, Thomas Borbjerg, Ørngreen, Mette Cathrine

Volltext

Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy von OLSEN, David B, ØRNGREEN, Mette Cathrine, VISSING, John

Volltext

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation von Echaniz‐Laguna, Andoni, Lornage, Xavière, Laforêt, Pascal, Orngreen, Mette C., Edelweiss, Evelina, Brochier, Guy, Bui, Mai T., Silva‐Rojas, Roberto, Birck, Catherine, Lannes, Béatrice, Romero, Norma B., Vissing, John, Laporte, Jocelyn, Böhm, Johann

Volltext

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease von Preisler, Nicolai, Laforet, Pascal, Madsen, Karen Lindhardt, Hansen, Regitze Sølling, Lukacs, Zoltan, Ørngreen, Mette Cathrine, Lacour, Arnaud, Vissing, John

Volltext

No effect of triheptanoin in patients with phosphofructokinase deficiency von Raaschou-Pedersen, Daniel Emil, Madsen, Karen Lindhardt, Løkken, Nicoline, Storgaard, Jesper Helbo, Quinlivan, Ros, Laforêt, Pascal, Lund, Allan, Van Hall, Gerrit, Vissing, John, Ørngreen, Mette

Volltext

Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity von Naume, Marie Mostue, Zhao, Qiaolin, Haslund-Krog, Sissel Sundell, Krag, Thomas, Winter, Brenda C.M. de, Revsbech, Karoline Lolk, Vissing, John, Holst, Helle, Møller, Morten Hylander, Hornsyld, Tessa Munkeboe, Dunø, Morten, Hoei-Hansen, Christina Engel, Born, Alfred Peter, Bo Jensen, Per, Cathrine Ørngreen, Mette

Volltext