• Issue

    Journal of Inherited Metabolic Disease: Volume 22, Issue 8

    855-960
    December 1999
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Articles

Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia

M. Valtonen,  K. Näntö-Salonen,  S. Jääskeläinen,  K. Heinänen,  A. Alanen,  O. J. Heinonen,  N. Lundbom,  M. Erkintalo,  O. Simell, 
  • Pages: 855-866
  • First Published: 01 December 1999

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

I. Baric,  L. Wagner,  P. Feyh,  M. Liesert,  W. Buckel,  G. F. Hoffmann, 
  • Pages: 867-882
  • First Published: 01 December 1999

Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts

D. P. O'Brien,  B. A. Barshop,  K. K. Faunt,  G. C. Johnson,  K. M. Gibson,  G. D. Shelton, 
  • Pages: 883-890
  • First Published: 01 December 1999

Blood lipids and endothelial function in glycogen storage disease type III

E. Hershkovitz,  A. Donald,  M. Mullen,  P. J. Lee,  J. V. Leonard, 
  • Pages: 891-898
  • First Published: 01 December 1999

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

S. L. White,  S. Shanske,  J. J. McGill,  H. Mountain,  M. T. Geraghty,  S. DiMauro,  H.-H. M. Dahl,  D. R. Thorburn, 
  • Pages: 899-914
  • First Published: 01 December 1999

Atlas of Common Lysosomal and Peroxisomal Disorders. by Mohammed A. Al-Essa, Pinar T. Ozand

J. E. Wraith, 
  • Page: 914
  • First Published: 01 December 1999

Metabolism at a Glance, 2nd Edition. J.G. Salway

R.A. Harkness, 
  • Page: 914
  • First Published: 01 December 1999

Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum

E. J. Quackenbush,  K. H. Kraemer,  W. A. Gahl,  V. Schirch,  D. A. H. Whiteman,  K. Levine,  H. L. Levy, 
  • Pages: 915-924
  • First Published: 01 December 1999

Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies

I. P. Hargreaves,  S. J. R. Heales,  J. M. Land, 
  • Pages: 925-931
  • First Published: 01 December 1999

β-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: A frequent disease in Tunisia?

K. Monastiri,  F. Amri,  K. Limam,  N. Kaabachi,  M. N. Guediche, 
  • Pages: 932-933
  • First Published: 01 December 1999

Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci

M. Asghar,  N. C. Nevin,  E. D. Beattie,  D. McManus,  G. M. A. Roberts,  J. A. Phillips, 
  • Pages: 933-935
  • First Published: 01 December 1999

Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib

D. M. Neele,  C. M. F. Kneepkens,  N. M. Verhoeven,  C. Jakobs, 
  • Pages: 936-937
  • First Published: 01 December 1999

Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations

W.-L. Hwu,  S.-C. Chiang,  S.-F. Huang,  M.-H. Chang,  W.-H. Wen,  T.-R. Wang, 
  • Pages: 937-938
  • First Published: 01 December 1999

Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993>G mutation

M. A. Martín,  Y. Campos,  M. T. García-Silva,  J. C. Rubio,  P. Del Hoyo,  F. de Bustos,  A. García,  J. Arenas, 
  • Pages: 939-940
  • First Published: 01 December 1999

Adult carnitine palmitoyltransferase II deficiency: Detection of characteristic carnitine esters in serum by tandem mass spectrometry

K. Gempel,  M. Kottlors,  M. Jaksch,  K.-D. Gerbitz,  M. F. Bauer, 
  • Pages: 941-942
  • First Published: 01 December 1999

Galactosaemia presenting as congenital pseudoafibrinogenaemia

M. Ruiz,  S. Jover,  M. Armas,  M. R. Duque,  C. Santana,  M. L. Girós,  M. D. Boleda, 
  • Pages: 943-944
  • First Published: 01 December 1999

Urinary excretion of Krebs cycle metabolites in a 13-year-old girl

J. Zschocke,  G. Koch,  G. F. Hoffmann, 
  • Page: 945
  • First Published: 01 December 1999

Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome

C. J. Ellaway,  L. R. McQuade,  J. Christodoulou, 
  • Pages: 946-947
  • First Published: 01 December 1999

Analysis of three mutations in Turkish children with Gaucher disease

F. Gürakan,  M. Terzioğlu,  N. Koçak,  A. Yüce,  H. Özen,  G. Ciliv,  S. Emre, 
  • Pages: 947-948
  • First Published: 01 December 1999

Normal kynurenine metabolism in 2-oxoadipic aciduria

A. C. Sewell,  J. Herwig,  H. Böhles,  N. G. G. M. Abeling,  A. H. van Gennip, 
  • Pages: 949-950
  • First Published: 01 December 1999

Towards metabolic sink therapy for mut methylmalonic acidaemia: Retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia

Chin-Chuan Chang,  Kwang-Jen Hsiao,  Mao-Liang Chen,  Chun-Ming Lin, 
  • Pages: 951-952
  • First Published: 01 December 1999

Author Index to Volume 22

  • Pages: 953-957
  • First Published: 01 December 1999

Subject Index to Volume 22

  • Pages: 958-960
  • First Published: 01 December 1999