✦ LIBER ✦

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

✍ Scribed by Amanda J Heslegrave, Ritika R Kapoor, Simon Eaton, Bernadette Chadefaux, Teoman Akcay, Enver Simsek, Sarah E Flanagan, Sian Ellard, Khalid Hussain

Book ID: 119911416
Publisher: BioMed Central
Year: 2012
Tongue: English
Weight: 224 KB
Volume: 7
Category: Article
ISSN: 1750-1172
DOI: 10.1186/1750-1172-7-25

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel Insights Into Fatty Acid Oxidation

Novel Insights Into Fatty Acid Oxidation, Amino Acid Metabolism, and Insulin Secretion From Studying Patients With Loss of Function Mutations in 3-Hydroxyacyl-CoA Dehydrogenase

✍ Heslegrave, Amanda J.; Hussain, Khalid 📂 Article 📅 2013 🏛 Endocrine Society 🌐 English ⚖ 182 KB

Acute Dilated Cardiomyopathy in a Patien

Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase

✍ Peter C. Dyke; Laura Konczal; Dennis Bartholomew; Kim L. McBride; Timothy M. Hof 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 227 KB

Absence of G1528C mutation in long-chain

Absence of G1528C mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase in four Indian patients with pregnancy-related liver disease

✍ Raghupathy, V.; Goel, Ashish; Thangaraj, Kavitha R.; Eapen, C. E.; Balasubramani 📂 Article 📅 2013 🏛 Springer-Verlag 🌐 English ⚖ 206 KB

Pathology of skeletal muscle and impaire

Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-coa dehydrogenase deficiency with the G1528C mutation

✍ Tiina Tyni; Anna Majander; Hannu Kalimo; Juhani Rapola; Helena Pihko 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 911 KB

Acylcarnitines in fibroblasts of patient

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders

✍ J. J. Shen; D. Matern; D. S. Millington; S. Hillman; M. D. Feezor; M. J. Bennett 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 158 KB

Striking improvement of muscle strength

Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

✍ G. C. Korenke; R. J. A. Wanders; F. Hanefeld 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 41 KB