Journal of Inherited Metabolic Disease

Preface

Mutations affecting the β–β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionyl-CoA carboxylase functional domains

S. Muro, B. Pérez, P. Rodríguez-Pombo, L. R. Desviat, C. Pérez-Cerd´, M. Ugarte

Oral lysine feeding in gyrate atrophy with hyperornithinaemia – A pilot study

K. Peltola, O. J. Heinonen, K. Näntö-Salonen, K. Pulkki, O. Simell

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

M. Linnebank, A. Homberger, B. Rapp, C. Winter, T. Marquardt, E. Harms, H. G. Koch

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment

A. B. Burlina, L. Bonafé, V. Ferrari, A. Suppiej, F. Zacchello, A. P. Burlina

Derangement of the dopaminergic system in phenylketonuria: Study of the event-related potential (P300)

V. Leuzzi, S. Seri, A. Cerquiglini, Cl. Carducci, Ca. Carducci, I. Antonozzi

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: Biochemical findings in two patients

C. Bräutigam, R. A. Wevers, K. Hyland, R. K. Sharma, A. Knust, G. F. Hoffmann

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency

N. G. G. M. Abeling, C. Bräutigam, G. F. Hoffmann, P. G. Barth, R. A. Wevers, J. Jaeken, A. Fiumara, A. Knust, A. H. van Gennip

Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies

Á. Schuler, R. Kálmánchey, P. Barsi, C. S. Somogyi, I. Törös, I. Váradi, Á. Kovács, N. Blau

Genotype–phenotype correlation in dihydropteridine reductase deficiency

L. de Sanctis, C. Alliaudi, M. Spada, R. Farrugia, R. Cerone, G. Biasucci, C. Meli, E. Zammarchi, T. Coskun, N. Blau, A. Ponzone, I. Dianzani

Osteoporosis in late-diagnosed adult homocystinuric patients

F. Parrot, I. Redonnet-Vernhet, D. Lacombe, H. Gin

3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign

R. Ensenauer, C. B. Müller, K. O. Schwab, K. M. Gibson, M. Brandis, W. Lehnert

Antenatal expression of multiple acyl-CoA dehydrogenase deficiency

C. Vianey-Saban, R. Bouvier, P. Cochat, A. Buenerd, P. Divry, R. Dumoulin, M. P. Cordier

Oxidative abnormalities in Menkes disease

C. Rizzo, E. Bertini, F. Piemonte, V. Leuzzi, G. Sabetta, G. Federici, A. Luchetti, C. Dionisi-Vici

The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies

I. P. Hargreaves, S. J. R. Heales, S. E. Olpin, J. A. Morgan-Hughes, J. M. Land

Methylmalonic acid induces excitotoxic neuronal damage in vitro

S. Kölker, B. Ahlmeyer, J. Krieglstein, G. F. Hoffmann

Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: Fever and tumour necrosis factor-α

S. Kölker, B. Ahlmeyer, J. Krieglstein, G. F. Hoffmann

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

B. T. Poll-The, J. Frenkel, S. M. Houten, W. Kuis, M. Duran, T. J. de Koning, L. Dorland, M. M. J. de Barse, G. J. Romeijn, R. J. A. Wanders, H. R. Waterham

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene

S. M. Houten, J. Frenkel, W. Kuis, R. J. A. Wanders, B. T. Poll-The, H. R. Waterham

Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment

J. Zeman, J. Krijt, L. Stratilová, H. Hansíková, L. Wenchich, S. Kmoch, P. Chrastina, J. Houštěk

Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency

A. M. Das, K. Ullrich, D. Isbrandt

Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency

J. Zschocke, E. Mayatepek

UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

Y. S. Shin, G.-C. Korenke, P. Huppke, I. Knerr, T. Podskarbi

Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I

R. Barone, G. Giuffrida, R. Musso, G. Carpinteri, A. Fiumara

Carbohydrate-deficient glycoprotein syndromes: The Italian experience

M. Di Rocco, R. Barone, A. Adami, A. Burlina, M. Carrozzi, C. Dionisi-Vici, R. Gatti, P. Iannetti, R. Parini, U. Raucci, M. Roccella, M. Spada, A. Fiumara

Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

J. M. Fletcher, G. Matthijs, J. Jaeken, E. Van Schaftingen, P.V. Nelson

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

C. Knopf, R. Rod, J. Jaeken, M. Berant, E. Van Schaftingen, J. P. Fryns, R. Brill-Zamir, R. Gershoni-Baruch, S. Lischinsky, H. Mandel

Defects in the synthesis of cysteinyl leukotrienes: A new group of inborn errors of metabolism

E. Mayatepek, R. Zelezny, W. D. Lehmann, J. W. Hammond, G. F. Hoffmann

Smith–Lemli–Opitz syndrome: Molecular-genetic analysis of ten families

L. Kozák, H. Francová, E. Hrabincová, D. Procházková, V. Jüttnerová, V. Bzdúch, P. Šimek

Serum lipids and apolipoproteins in children with the Smith–Lemli–Opitz syndrome

D. Behúlová, V. Bzdúch, J. Škodová, A. Dello Russo, G. Corso, J. Ponec, A. Kasanická

Perturbation of protein kinase C subtype activation in X-ALD fibroblasts: Possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophy

A. Ben-Yaacov, J. Minichiello, D. Newgreen, A. Boneh

Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome

G. A. Jansen, S. Denis, N. M. Verhoeven, C. Jakobs, R. J. A. Wanders

Characteristic urine organic acid profile in peroxisomal biogenesis disorders

S. H. Korman, H. Mandel, A. Gutman

Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders

P. Vreken, F. Valianpour, H. Overmars, P. G. Barth, J. J. M. Selhorst, A. H. van Gennip, R. J. A. Wanders

The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism

T. Ito, A. B. P. van Kuilenburg, A. H. Bootsma, A. J. Haasnoot, A. van Cruchten, Y. Wada, A. H. van Gennip