Journal of Inherited Metabolic Disease

Update on mitochondrial fatty acid oxidation disorders
pp. 467-468(2)
Authors: Spiekerkoetter, Ute; Mayatepek, Ertan

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation
pp. 469-477(9)
Authors: Houten, Sander; Wanders, Ronald

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
pp. 479-494(16)
Authors: Wanders, Ronald; Ruiter, Jos; IJlst, Lodewijk; Waterham, Hans; Houten, Sander

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders
pp. 495-500(6)
Authors: Lund, Allan; Skovby, Flemming; Vestergaard, Helle; Christensen, Mette; Christensen, Ernst

Fatty acid oxidation disorders: outcome and long-term prognosis
pp. 501-506(6)
Author: Wilcken, Bridget

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
pp. 507-511(5)
Authors: Maldegem, Bianca; Wanders, Ronald; Wijburg, Frits

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
pp. 513-520(8)
Authors: Schatz, Ulrich; Ensenauer, Regina

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting
pp. 521-526(6)
Authors: Lindner, Martin; Hoffmann, Georg; Matern, Dietrich

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
pp. 527-532(6)
Author: Spiekerkoetter, Ute

Pathophysiology of fatty acid oxidation disorders
pp. 533-537(5)
Author: Bennett, M.

Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models
pp. 539-546(8)
Authors: Spiekerkoetter, Ute; Wood, Philip

Disease mechanisms and protein structures in fatty acid oxidation defects
pp. 547-553(7)
Authors: Gregersen, Niels; Olsen, Rikke

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders
pp. 555-561(7)
Authors: Spiekerkoetter, Ute; Bastin, Jean; Gillingham, Melanie; Morris, Andrew; Wijburg, Frits; Wilcken, Bridget

Cerebral folate deficiency
pp. 563-570(8)
Authors: Hyland, Keith; Shoffner, John; Heales, Simon

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
pp. 571-581(11)
Authors: Scharer, Gunter; Brocker, Chad; Vasiliou, Vasilis; Creadon-Swindell, Geralyn; Gallagher, Renata; Spector, Elaine; Van Hove, Johan

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
pp. 583-589(7)
Authors: Kaler, Stephen; Liew, Clarissa; Donsante, Anthony; Hicks, Julia; Sato, Susumu; Greenfield, Jacquelyn

A retrospective analysis of outcome of pregnancy in patients with acute porphyria
pp. 591-596(6)
Authors: Marsden, Joanne; Rees, David

Hearing loss in Pompe disease revisited: results from a study of 24 children
pp. 597-602(6)
Authors: Capelle, Carine; Goedegebure, Andre; Homans, Nienke; Hoeve, Hans; Reuser, Arnold; Ploeg, Ans

The neuropsychological profile of galactosaemia
pp. 603-609(7)
Authors: Doyle, Claire; Channon, Shelley; Orlowska, Danuta; Lee, Philip

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice
pp. 611-617(7)
Authors: Dunder, Ulla; Valtonen, Pirjo; Kelo, Eira; Mononen, Ilkka

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
pp. 619-624(6)
Authors: Lin, Hsiang-Yu; Huang, Cheng-Hung; Yu, Hsiao-Chi; Chong, Kah-Wai; Hsu, Ju-Hui; Lee, Pi-Chang; Cheng, Kang-Hsiang; Chiang, Chuan-Chi; Ho, Huey-Jane; Lin, Shuan-Pei; Chen, Shih-Jen; Lin, Po-Kang; Niu, Dau-Ming

Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
pp. 625-632(8)
Authors: Henneman, L.; Schneiders, M.; Turkenburg, M.; Waterham, H.

Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement
pp. 633-634(2)
Authors: Kim, Cinoo; Jeong, Jinho; Yu, Hyeong