• Issue

    Journal of Inherited Metabolic Disease: Volume 17, Issue 3

    257-378
    May 1994
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Articles

Preface

G. M. Addison,  G. T. N. Besley,  R. A. Harkness,  R. J. Pollitt, 
  • Page: 257
  • First Published: May 1994

Free communications

  • Pages: 258-262
  • First Published: May 1994

Short Communication — SSIEM Award

Impaired metabolism of leukotrienes in inherited metabolic disorders

E. Mayatepek,  G. F. Hoffmann, 
  • Pages: 263-266
  • First Published: 01 May 1994

Short Communication

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Z. Tümer,  T. Tønnesen,  N. Horn, 
  • Pages: 267-270
  • First Published: May 1994

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

M. Brivet,  A. Slama,  H. Ogier,  A. Boutron,  F. Demaugre,  J. M. Saudubray,  A. Lemonnier, 
  • Pages: 271-274
  • First Published: May 1994

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

B. S. Andresen,  P. Bross,  I. Knudsen,  V. Winter,  S. Kølvraa,  L. Bolund,  N. Gregersen, 
  • Pages: 275-278
  • First Published: May 1994

Prenatal diagnosis of a defect in mediumchain fatty acid oxidation

R. J. Pollitt,  N. J. Manning,  S. E. Olpin,  I. D. Young, 
  • Pages: 279-282
  • First Published: May 1994

Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

M. J. Bennett,  M. J. Weinberger,  W. G. Sherwood,  A. B. Burlina, 
  • Pages: 283-286
  • First Published: May 1994

The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family

E. Christensen,  N. J. Brandt,  T. Rosenberg,  K. Bömers,  C. Jakobs, 
  • Pages: 287-290
  • First Published: 01 May 1994

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

K. M. Gibson,  S. B. Cassidy,  L. H. Seaver,  R. J. A. Wanders,  N. G. Kennaway,  G. A. Mitchell,  R. P. Spark, 
  • Pages: 291-294
  • First Published: May 1994

Canavan disease: Molecular basis of aspartoacylase deficiency

R. Kaul,  G. P. Gao,  K. Balamurugan,  R. Matalon, 
  • Pages: 295-297
  • First Published: May 1994

Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion

A. Luder,  V. Barash, 
  • Pages: 298-300
  • First Published: May 1994

Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

B. Garavaglia,  V. Colamaria,  F. Carrara,  P. Tonin,  M. Rimoldi,  G. Uziel, 
  • Pages: 301-303
  • First Published: May 1994

Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: A new method with potential for prenatal diagnosis

R. J. A. Wanders,  J. P. N. Ruiter,  F. A. Wijburg, 
  • Pages: 304-306
  • First Published: May 1994

Polarographic studies of saponin-skinned muscle fibres in patients with mitochondrial myopathies

W. Sperl,  D. Skladal,  N. Lanznaster,  R. Schranzhofer,  G. Zaunschirm,  E. Gnaiger,  E. Plöchl,  F. Gellerich, 
  • Pages: 307-310
  • First Published: May 1994

Searching for mutations in the arylsulphatase A gene

M. B. Salamon,  E. Christensen,  M. Schwartz, 
  • Pages: 311-314
  • First Published: May 1994

Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder

R. J. A. Wanders,  C. Dekker,  V. A. P. Hovarth,  R. B. H. Schutgens,  J. M. Tager,  P. van Laer,  D. Lecoutere, 
  • Pages: 315-318
  • First Published: 01 May 1994

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

R. B. H. Schutgens,  R. J. A. Wanders,  C. Jakobs,  M. Arslan-Kirchner,  K. Miller,  P. Wieacker,  D. Hunnemann,  P. Hurter,  M. von Schutz, 
  • Pages: 319-322
  • First Published: 01 May 1994

Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders

S. J. Steinberg,  A. H. Fensom,  N. R. Dalton,  P. A. Toseland,  C. R. Kennedy,  A. P. Mowat, 
  • Pages: 323-326
  • First Published: May 1994

Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins

J. Gärtner,  C. Obie,  P. Watkins,  D. Valle, 
  • Pages: 327-329
  • First Published: 01 May 1994

Structural anomalies in patients with inherited metabolic diseases

F. J. Bamforth,  J. S. Bamforth,  D. A. Applegarth, 
  • Pages: 330-332
  • First Published: May 1994

Fructose-1,6-bisphosphatase deficiency: Severe phenotype with normal leukocyte enzyme activity

G. T. N. Besley,  J. H. Walter,  M. A. Lewis,  C. R. Chard,  G. M. Addison, 
  • Pages: 333-335
  • First Published: 01 May 1994

Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine: Glyoxylate aminotransferase

V. A. P. Horváth,  R. J. A. Wanders, 
  • Pages: 336-338
  • First Published: May 1994

Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis

N. G. G. M. Abeling,  A. H. van Gennip,  H. Overmars,  B. A. van Oost,  H. G. Brunner, 
  • Pages: 339-341
  • First Published: 01 May 1994

Prenatal diagnosis of non-ketotic hyperglycinaemia: Experience in 50 at-risk pregnancies

J. R. Toone,  D. A. Applegarth,  H. L. Levy, 
  • Pages: 342-344
  • First Published: May 1994

Immune function in prolidase deficiency

M. A. Cleary,  M. Heaney,  J. M. Couriel,  J. H. Walter, 
  • Pages: 345-348
  • First Published: May 1994

Effect ofl-DOPA on pattern visual evoked potentials (P-100) and neuropsychological tests in untreated adult patients with phenylketonuria

K. Ullrich,  J. Weglage,  C. Oberwittler,  M. Pietsch,  B. Fünders,  H. van Eckhardstein,  J. P. Colombo, 
  • Pages: 349-352
  • First Published: 01 May 1994

Maternal PKU Collaborative Study: Pregnancy outcome and postnatal head growth

R. Matalon,  K. Michals,  C. Azen,  E. Friedman,  R. Koch,  B. Rouse,  W. B. Hanley,  F. de la Cruz, 
  • Pages: 353-355
  • First Published: 01 May 1994

Short Communication — The PAH Gene

Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA

R. Kaul,  R. Matalon,  R. Allen,  R. O. Fisch,  K. Michals,  A. Petrosky,  D. Sullivan, 
  • Pages: 356-358
  • First Published: May 1994

Mutation screening versus gene scanning for genotyping phenylketonuria patients

P. Guldberg,  F. Güttler, 
  • Pages: 359-361
  • First Published: May 1994

Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders

U. Lichter-Konecki,  A. Rupp,  D. S. Konecki,  F. K. Trefz,  H. Schmidt,  P. Burgard, 
  • Pages: 362-365
  • First Published: May 1994

Phenotype distribution in the Spanish phenylketonuria population and related genotypes

M. Martínez-Pardo,  A. R. Colmenares,  M. J. García,  B. Pérez,  L. R. Desviat,  M. Ugarte, 
  • Pages: 366-368
  • First Published: May 1994

Short Report — The PAH Gene

Heterogeneity of phenylketonuria in Belgium at the genotype-phenotype level

B. Francois,  C. Vandevyver,  P Verelst,  L. Phillippaert,  J. Raus, 
  • Pages: 369-370
  • First Published: May 1994

Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria

İ. Özalp,  T. Coskun,  M. Özgüc,  A. Tokatlı,  K. Yalaz,  L. Vanlı,  E. Yılmaz,  A. Erbay, 
  • Page: 371
  • First Published: May 1994

Cognitive development related to metabolic phenotype and mutation genotype in 25 Hungarian patients with phenylketonuria

A. Schuler,  Cs. Somogyi,  M. Máté,  L. Pataki,  I. Törös,  S. L. C. Woo,  R. C. Eisensmith,  Gy. Fekete, 
  • Page: 372
  • First Published: May 1994

Association between mutations and the variable number tandem repeat alleles in a sample of Turkish phenylketonuria patients

M. Özgüc,  E. Yılmaz,  H. Erdem,  T. Coskun,  A. Tokatlı,  İ. Özalp, 
  • Pages: 373-374
  • First Published: May 1994

Genotype-phenotype correlation in 11 Romanian PKU families

A. Popescu,  T. Andrian,  F. Güttler,  P. Guldberg, 
  • Pages: 374-375
  • First Published: May 1994

Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe

I. Barić,  D. Mardešić,  V. Sarnavøka,  U. Lichter-Konecki,  D. S. Konecki,  F. K. Trefz, 
  • Pages: 376-377
  • First Published: May 1994

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

B. Pérez,  L. R. Desviat,  M. J. García,  M. Ugarte, 
  • Pages: 377-378
  • First Published: May 1994