Journal of Inherited Metabolic Disease

Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria

P. Kamoun, V. Richard, D. Rabier, J. M. Saudubray

Instructions to Authors

Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion

I. P. Hargreaves, S. Rahman, P. Guthrie, J-W. Taanman, J. V. Leonard, J. M. Land, S. J. R. Heales

Screening for Carnitine Palmitoyltransferase II Deficiency by Tandem Mass Spectrometry

K. Gempel, S. Kiechl, S. Hofmann, H. Lochmüller, U. Kiechl-Kohlendorfer, J. Willeit, W. Sperl, A. Rettinger, I. Bieger, D. Pongratz, K. D. Gerbitz, M. F. Bauer

D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings

M. Wajner, C. R. Vargas, C. Funayama, A. Fernandez, M. L. C. Elias, S. I. Goodman, C. Jakobs, M. S. van der Knaap

Glu274Lys/Gly309Arg Mutation of the Tissue-Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions

I. Litmanovitz, O. Reish, T. Dolfin, S. Arnon, R. Regev, G. Grinshpan, M. Yamazaki, K. Ozono

Diagnosis of Fructose-1,6-Bisphosphatase Deficiency Using Cultured Lymphocyte Fraction: A Secure and Noninvasive Alternative to Liver Biopsy

Y. Kikawa, Y. S. Shin, M. Inuzuka, E. Zammarchi, M. Mayumi

Corrigendum

Glycolipid Analysis of Different Tissues and Cerebrospinal Fluid in Type II Gaucher Disease

R. Gornati, B. Berra, G. Montorfano, C. Martini, G. Ciana, P. Ferrari, M. Romano, B. Bembi

Lipid Status and Long-Chain Polyunsaturated Fatty Acid Concentrations in Adults and Adolescents with Phenylketonuria on Phenylalanine-Restricted Diet

K. Moseley, R. Koch, A.B. Moser

Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings

U. Lässker, J. Zschocke, N. Blau, R. Santer

Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening

E. Naito, M. Ito, S. Matsuura, I. Yokota, T. Saijo, Y. Ogawa, S. Kitamura, K. Kobayashi, T. Saheki, Y. Nishimura, N. Sakura, Y. Kuroda

Nasomaxillary Hypoplasia and Severe Orofacial Clefting in a Child of a Mother with Phenylketonuria

E. Sweeney, A. Fryer

Incidence of Phenylketonuria in Iran Estimated from Consanguineous Marriages

J. Koochmeshgi, A. Bagheri, S.M. Hosseini-Mazinani