• Issue

    Journal of Inherited Metabolic Disease: Volume 16, Issue 4

    613-811
    July 1993
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Articles

Preface

R. A. Harkness,  J. Jaeken,  G. M. Addison,  G. T. N. Besley,  R. J. Pollitt, 
  • Page: 613
  • First Published: July 1993

Introduction of the Komorower commemorative lecture Leuven 1992

Dr Brian Fowler, 
  • Pages: 614-616
  • First Published: July 1993

Extracellular and cerebrospinal fluids

M. B. Segal, 
  • Pages: 617-638
  • First Published: July 1993

The blood-brain barrier: Cellular basis

R. C. Janzer, 
  • Pages: 639-647
  • First Published: July 1993

Physiology and pathophysiology of organic acids in cerebrospinal fluid

G. F. Hoffmann,  W. Meier-Augenstein,  S. Stöckler,  R. Surtees,  D. Rating,  W. L. Nyhan, 
  • Pages: 648-669
  • First Published: July 1993

Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases

G. P. J. M. Gerrits,  L. A. H. Monnens,  F. J. M. Gabreëls,  R. A. De Abreu,  A. Koster,  J. M. F. Trijbels, 
  • Pages: 670-675
  • First Published: 01 July 1993

Abnormalities of biogenic amine metabolism

K. Hyland, 
  • Pages: 676-690
  • First Published: July 1993

Non-ketotic hyperglycinaemia: Molecular lesion, diagnosis and pathophysiology

K. Tada,  S. Kure, 
  • Pages: 691-703
  • First Published: July 1993

Inherited disorders of GABA metabolism

C. Jakobs,  J. Jaeken,  K. M. Gibson, 
  • Pages: 704-715
  • First Published: July 1993

Excitotoxicity, energy metabolism and neurodegeneration

A. C. Ludolph,  M. Riepe,  K. Ullrich, 
  • Pages: 716-723
  • First Published: July 1993

An introduction to the molecular basis of inherited myelin diseases

J. -M. Matthieu, 
  • Pages: 724-732
  • First Published: July 1993

The inherited leukodystrophies: A clinical overview

J. Aicardi, 
  • Pages: 733-743
  • First Published: July 1993

Canavan disease: Biochemical and molecular studies

R. Matalon,  R. Kaul,  K. Michals, 
  • Pages: 744-752
  • First Published: July 1993

l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase

P. G. Barth,  G. F. Hoffmann,  J. Jaeken,  R. J. A. Wanders,  M. Duran,  G. A. Jansen,  C. Jakobs,  W. Lehnert,  F. Hanefeld,  J. Valk,  R. B. H. Schutgens,  F. K. Trefz,  H. -P. Hartung,  N. A. Chamoles,  Z. Sfaello,  U. Caruso, 
  • Pages: 753-761
  • First Published: July 1993

Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain

R. Surtees, 
  • Pages: 762-770
  • First Published: July 1993

Inborn errors and demyelination: MRI and the diagnosis of white matter disease

B. E. Kendall, 
  • Pages: 771-786
  • First Published: July 1993

Genetic analysis of Batten disease

R. M. Gardiner, 
  • Pages: 787-790
  • First Published: July 1993

Recent developments in Menkes disease

H. Kodama, 
  • Pages: 791-799
  • First Published: July 1993

Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders

J. H. Cross,  D. G. Gadian,  A. Connelly,  J. V. Leonard, 
  • Pages: 800-811
  • First Published: July 1993