• Issue

    Journal of Inherited Metabolic Disease: Volume 15, Issue 3

    297-434
    May 1992
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Articles

Preface

G. M. Addison,  G. T. N. Besley,  R. A. Harkness,  R. J. Pollitt, 
  • Page: 297
  • First Published: May 1992

Free communications

  • Pages: 298-302
  • First Published: May 1992

Short Communication

The use of chorionic villi in prenatal diagnosis of mitochondriopathies

W. Ruitenbeek,  R. C. A. Sengers,  J. M. F. Trijbels,  A. J. M. Janssen,  J. A. J. M. Bakkeren, 
  • Pages: 303-306
  • First Published: May 1992

Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with pearson syndrome by a sensitive PCR assay

D. D. de Vries,  W. Ruittenbeek,  B. A. van Oost, 
  • Pages: 307-310
  • First Published: 01 May 1992

Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies

K. Inui,  H. Tsukamoto,  H. Fukushima,  M. Taniike,  J. Tanaka,  T. Nishigaki,  S. Okada, 
  • Pages: 311-314
  • First Published: May 1992

Mitochondrial abnormalities in the DIDMOAD syndrome

S. Bundey,  K. Poulton,  H. Whitwell,  E. Curtis,  I. A. R. Brown,  A. R. Fielder, 
  • Pages: 315-319
  • First Published: May 1992

Unusual clinical presentation in two boys with cytochromec oxidase deficiency

M. Hrebíček,  J. Zeman,  B. Petrák,  V. Kožich,  J. Hyánek,  J. P. N. Ruiter,  R. J. A. Wanders,  F. A. Wijburg, 
  • Pages: 320-322
  • First Published: May 1992

Fatal cytochromec oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

N. Telerman-Toppet,  D. Biarent,  J. -M. Bouton,  L. de Meirleir,  C. Elmer,  S. Noel,  E. Vamos,  S. DiMauro, 
  • Pages: 323-326
  • First Published: 01 May 1992

Mitochondrial DNA deletion in an 8-year-old boy with pearson syndrome

K. E. Baerlocher,  A. Feldges,  M. Weissert,  H. J. Simonsz,  A. Rötig, 
  • Pages: 327-330
  • First Published: May 1992

Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis

H. R. Scholte,  H. F. M. Busch,  I. E. M. Luyt-Houwen, 
  • Pages: 331-334
  • First Published: May 1992

Biochemical and DNA markers of X-linked hypophosphataemic rickets: A study of sporadic cases

E. Pronicka,  E. Popowska,  E. Rowińska,  D. Piekutowska,  M. Oglecka,  M. Krajewska-Walasek, 
  • Pages: 335-338
  • First Published: May 1992

Screening for mutations in the gene encoding factor IX

L. R. Nielsen,  M. Schwartz,  E. Scheibel, 
  • Pages: 339-341
  • First Published: May 1992

Gene diagnosis and carrier detection in hunter syndrome by the iduronate-2-sulphatase cDNA probe

A. Gal,  M. Beck,  A. C. Sewell,  C. P. Morris,  E. Schwinger,  J. J. Hopwood, 
  • Pages: 342-346
  • First Published: May 1992

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver

H. R. Scholte,  J. D. Ross,  W. Blom,  A. M. C. Boonman,  O. P. van Diggelen,  C. L. Hall,  J. G. M. Huijmans,  I. E. M. Luyt-Houwen,  W. J. Kleijer,  J. B. C. de Klerk,  H. Przyrembel,  M. H. M. Verduin,  J. C. M. Verstegen, 
  • Pages: 347-352
  • First Published: 01 May 1992

Gluconeogenesis and ketogenesis in perfused livers from short-chain acyl-CoA dehydrogenase-deficient mice

H. Yamanaka,  Y. Ueshima,  T. Nakajima,  N. Yoshida,  F. Inoue,  N. Kodo,  A. Kinugasa,  T. Sawada, 
  • Pages: 353-355
  • First Published: May 1992

Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: Potential for pre- and postnatal diagnosis

R. J. A. Wanders,  L. Ijlst, 
  • Pages: 356-358
  • First Published: May 1992

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts

O. Søvik,  J. -M. Saudubray,  A. Munnich,  L. Sweetman, 
  • Pages: 359-362
  • First Published: May 1992

3-methylglutaconyl-coenzyme-A hydratase deficiency: A new case

K. M. Gibson,  C. F. Lee,  R. S. Wappner, 
  • Pages: 363-366
  • First Published: May 1992

Significance of bound glutarate in the diagnosis of glutaric aciduria type I

A. Ribes,  E. Riudor,  P. Briones,  E. Christensen,  J. Campistol,  D. S. Millington, 
  • Pages: 367-370
  • First Published: May 1992

A new case of succinyl-CoA: Acetoacetate transferase deficiency

C. Pérez-Cerdá,  B. Merinero,  P. Sanz,  A. Jiménez,  C. Hernández,  M. J. Garcia,  M. Ugarte, 
  • Pages: 371-373
  • First Published: May 1992

Paediatric cerebrotendinous xanthomatosis

R. A. Wevers,  J. R. M. Cruysberg,  A. F. J. Van Heijst,  F. S. M. Janssen-Zijlstra,  W. O. Renier,  B. G. M. Van Engelen,  J. J. M. Tolboom, 
  • Pages: 374-376
  • First Published: 01 May 1992

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

J. A. M. Smeitink,  F. A. Beemer,  M. Espeel,  R. A. M. G. Donckerwocke,  C. Jakobs,  R. J. A. Wanders,  R. B. H. Schutgens,  F. Roels,  M. Duran,  L. Dorland,  R. Berger,  B. T. Poll-The, 
  • Pages: 377-380
  • First Published: May 1992

Zellweger-like phenotype in two siblings: A defect in peroxisomal β-oxidation with elevated very long-chain fatty acids but normal bile acids

H. Mandel,  M. Berant,  A. Aizin,  R. Gershony,  S. Hemmli,  R. B. H. Schutgens,  R. J. A. Wanders, 
  • Pages: 381-384
  • First Published: May 1992

Bifunctional enzyme deficiency: Identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal β-oxidation of unknown aetiology by means of complementation analysis

R. J. A. Wanders,  C. W. T. van Roermund,  S. Brul,  R. B. H. Schutgens,  J. M. Tager, 
  • Pages: 385-388
  • First Published: 01 May 1992

Short Communication—SSIEM Award

Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

R. J. A. Wanders,  H. Schumacher,  J. Heikoop,  R. B. H. Schutgens,  J. M. Tager, 
  • Pages: 389-391
  • First Published: May 1992

Short Communication

Prenatal diagnosis of canavan disease

R. Matalon,  K. Michals,  P. Gashkoff,  R. Kaul, 
  • Pages: 392-394
  • First Published: May 1992

PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders

A. B. Burlina,  C. Bachmann,  B. Wermuth,  A. Bordugo,  V. Ferrari,  J. P. Colombo,  F. Zacchello, 
  • Pages: 395-398
  • First Published: May 1992

Tryptophan therapy for non-ketotic hyperglycinaemia

F. Inoue,  S. Matsuo,  H. Yoshioka,  Y. Takeuchi,  H. Yamanaka,  N. Kodo,  A. Kinugasa,  T. Sawada, 
  • Pages: 399-401
  • First Published: May 1992

Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

N. Blau,  L. Kierat,  C. W. Heizmann,  W. Endres,  T. Giudici,  M. Wang, 
  • Pages: 402-404
  • First Published: May 1992

Suspected pterin-4a-carbinolamine dehydratase deficiency: Hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin

C. Adler,  S. Ghisla,  I. Rebrin,  C. W. Heizmann,  N. Blau,  H. -Ch. Curtius, 
  • Pages: 405-408
  • First Published: May 1992

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives

N. Blau,  L. Kierat,  H. -Ch. Curtius,  M. Blaskovics,  T. Giudici, 
  • Pages: 409-412
  • First Published: May 1992

Screening for defects of dihydropyrimidine degradation by analysis of amino acids in urine before and after acid hydrolysis

A. H. van Gennip,  P. C. Driedijk,  A. Elzinga,  N. G. G. M. Abeling, 
  • Pages: 413-415
  • First Published: 01 May 1992

Adenylosuccinase deficiency: A newly recognized variant

J. Jaeken,  F. Van Den Bergh,  M. F. Vincent,  P. Casaer,  G. Van den Berghe, 
  • Pages: 416-418
  • First Published: 01 May 1992

Lipid peroxidation in homocysteinaemia

H. J. Blom,  D. P. E. Engelen,  G. H. J. Boers,  A. M. Stadhouders,  R. C. A. Sengers,  R. de Abreu,  M. T. W. B. TePoele-Pothoff,  J. M. F. Trijbels, 
  • Pages: 419-422
  • First Published: 01 May 1992

Ischaemic forearm testing in a patient with Ca2+-ATPase deficiency

R. A. Wevers,  P. J. E. Poels,  E. M. G. Joosten,  G. G. H. Steenbergen,  A. A. G. M. Benders,  J. H. Veerkamp, 
  • Pages: 423-425
  • First Published: May 1992

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with ehlers-danlos syndrome type IV detected by denaturing gradient gel electrophoresis

P. H. Johnson,  A. J. Richards,  F. M. Pope,  D. A. Hopkinson, 
  • Pages: 426-430
  • First Published: May 1992

Statistical properties of the michaelis-menten equation and their implication for inborn errors of metabolism

J. W. T. Seakins,  M. Hjelm,  K. J. Wang, 
  • Pages: 431-434
  • First Published: May 1992