Journal of Inherited Metabolic Disease

Frontmatter

Maternal Phenylketonuria Collaborative Study (MPKUCS)—The 'outliers'

W. B. Hanley, C. Azen, R. Koch, K. Michals-Matalon, R. Matalon, B. Rouse, F. Trefz, S. Waisbren, F. de la Cruz

NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

D. Melis, A. C. Havelaar, E. Verbeek, G. P. A. Smit, A. Benedetti, G. M. S. Mancini, F. Verheijen

Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency

C. P. Venditti, M. C. Harris, D. Huff, I. Peterside, D. Munson, H. S. Weber, J. Rome, E. M. Kaye, S. Shanske, S. Sacconi, S. Tay, S. DiMauro, G. T. Berry

Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria and ACAD8 gene mutations in two infants

J. O. Sass, S. Sander, J. Zschocke

Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit

İ. Sinici, M. B. Tropak, D. J. Mahuran, H. A. Özkara

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease

D. Elstein, C. Hollak, J. M. F. G. Aerts, S. van Weely, M. Maas, T. M. Cox, R. H. Lachmann, M. Hrebicek, F. M. Platt, T. D. Butters, R. A. Dwek, A. Zimran

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations

M. Bertelli, D. Randi, V. Micheli, S. Gallo, G. Andrighetto, P. Parmigiani, G. Jacomelli, M. Carella, C. Lievore, M. Pandolfo

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria

M. A. Vilaseca, M. L. Cuartero, M. Martinez de Salinas, N. Lambruschini, X. Pintó, R. Urreizti, S. Balcells, D. Grinberg

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy

N. Makhseed, H.D. Vallance, M. Potter, P.J. Waters, L.T.K. Wong, Y. Lillquist, M. Pasquali, C. Amat di San Filippo, N. Longo

Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

T. Baykal, I. Karaaslan, G. Gokcay, F. Demir, Y. Laleli, M. Demirkol

S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency

J. G. Okun, S. Sauer, S. Bähr, H. Lenhartz, E. Mayatepek

Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients

Y. Wakutani, H. Nakayasu, T. Takeshima, M. Adachi, M. Kawataki, K. Kihira, H. Sawada, M. Bonno, H. Yamamoto, K. Nakashima

Stability of malonylcarnitine and glutarylcarnitine in stored blood spots

D. W. Johnson, M.-U. Trinh>

Raised HDL cholesterol in Fabry disease: Response to enzyme replacement therapy

D. J. Cartwright, A. L. Cole, A. J. Cousins, P. J. Lee

Book Reviews: Lysosomal disorders of the brain: Recent advances in molecular and cellular pathogenesis and treatment

Proceedings in Glutaryl-CoA Delhydrogenase Deficiency

Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: The challenge

S. I. Goodman

Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency

S. KÖlker, D. M. Koeller, S. Sauer, F. HÖrster, M. A. Schwab, G. F. Hoffmann, K. Ullrich, J. G. Okun

Animal models for glutaryl-CoA dehydrogenase deficiency

D. M. Koeller, S. Sauer, M. Wajner, C. F. de Mello, S. I. Goodman, M. Woontner, C. Mühlhausen, J. G. Okun, S. KÖlker

Preliminary attempts to establish a rat model of striatal injury in glutaric acidaemia type I

C. B. R. Funk, A. N. Prasad, M. R. Del Bigio

Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency

M. Wajner, S. KÖlker, D. O. Souza, G. F. Hoffmann, C. F. de Mello

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I

C. Mühlhausen, S. Ergün, K. A. Strauss, D. M. Koeller, L. Crnic, M. Woontner, S. I. Goodman, K. Ullrich, T. Braulke

Glutaric aciduria type I and kynurenine pathway metabolites: A modified hypothesis

S. Varadkar, R. Surtees

Challenges for basic research in glutaryl-CoA dehydrogenase deficiency

S. KÖlker, K. A. Strauss, S. I. Goodman, G. F. Hoffmann, J. G. Okun, D. M. Koeller

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

M. Lindner, S. KÖlker, A. Schulze, E. Christensen, C. R. Greenberg, G. F. Hoffmann

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

E. Christensen, A. Ribes, B. Merinero, J. Zschocke

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)

E. Neumaier-Probst, I. Harting, A. Seitz, C. Ding, S. Kolker

Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency

O. A. Bodamer, S. Gruber, S. StÖckler-Ipsiroglu

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

C. Mühlhausen, G. F. Hoffmann, K. A. Strauss, S. KÖlker, J. G. Okun, C. R. Greenberg, E. R. Naughten, K. Ullrich

Emergency treatment in glutaryl-CoA dehydrogenase deficiency

S. KÖlker, C. R. Greenberg, M. Lindner, E. Müller, E. R. Naughten, G. F. Hoffmann

Reduction of lysine intake while avoiding malnutrition—Major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency

E. Müller, S. KÖlker

Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options

A. P. Burlina, G. Zara, G. F. Hoffmann, J. Zschocke, A. B. Burlina

Glutaric aciduria type I: Outcome in the Republic of Ireland

E. R. Naughten, P. D. Mayne, A. A. Monavari, S. I. Goodman, G. Sulaiman, D. T. Croke

Looking forward—An evidence-based approach to glutaryl-CoA dehydrogenase deficiency

S. KÖlker, P. Burgard, J. G. Okun, A. Schulze-Bergkamen, B. Assmann, C. R. Greenberg, G. F. Hoffmann

Author Index to Volume 27

Subject Index to Volume 27