• Issue

    Journal of Inherited Metabolic Disease: Volume 14, Issue 2

    117-271
    March 1991
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Articles

Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-Years experience

J. -L. Dhondt, 
  • Pages: 117-127
  • First Published: 04 October 1990

Book review

R. A. Harkness,  J. W. T. Seakins, 
  • Page: 127
  • First Published: March 1991

First trimester diagnosis of Inherited Metabolic Disease: Experience in the UK

G. T. N. Besley,  E. P. Young,  A. H. Fensom,  A. Cooper, 
  • Pages: 128-133
  • First Published: 29 November 1990

Announcement

  • Page: 133
  • First Published: March 1991

Use of 4-trifluoromethylumbelliferyl-α-l-iduronide as a new substrate for detection of α-l-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease

I. V. Tsvetkova,  E. A. Karpova,  Y. V. Voznyi,  T. V. Zolotukhina,  V. V. Biryukov,  A. N. Semyachkina, 
  • Pages: 134-139
  • First Published: 10 May 1990

Characterization of the mutations in three patients with pyruvate dehydrogenase E1α deficiency

L. L. Hansen,  G. K. Brown,  D. M. Kirby,  H. -H. M. Dahl, 
  • Pages: 140-151
  • First Published: 27 September 1990

Announcement

  • Page: 151
  • First Published: March 1991

Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: Aberrant subcellular localization in Zellweger syndrome

C. W. T. van Roermund,  S. Brul,  J. M. Tager,  R. B. H. Schutgens,  R. J. A. Wanders, 
  • Pages: 152-164
  • First Published: 17 October 1990

Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder

M. J. Bennett,  R. J. Pollitt,  S. I. Goodman,  D. E. Hale,  J. Vamecq, 
  • Pages: 165-173
  • First Published: 10 October 1990

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia

P. T. Ozand,  A. Al Aqeel,  G. Gascon,  J. Brismar,  E. Thomas,  H. Gleispach, 
  • Pages: 174-188
  • First Published: 07 August 1990

Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta

R. Tenni,  P. Biglino,  K. Dyne,  A. Rossi,  M. Filocamo,  F. Pendola,  P. Brunelli,  P. Buttitta,  C. Borrone,  G. Cetta, 
  • Pages: 189-201
  • First Published: 18 June 1990

The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase

Dr. R. A. Harkness,  G. M. McCreanor,  R. Greenwood, 
  • Pages: 202-214
  • First Published: 24 April 1990

2-Deoxy-d-glucose uptake and fatty acid content in fibroblast cultures from children with syndromic paucity of interlobular bile ducts (alagille syndrome)

M. Couturier,  F. Lemonnier, 
  • Pages: 215-227
  • First Published: 16 July 1990

Thyroid structure and function in bovine β-mannosidosis

K. L. Lovell,  M. Z. Jones,  J. Patterson,  B. Abbitt,  P. Castenson, 
  • Pages: 228-230
  • First Published: 26 September 1990

Book review

R. A. Harkness, 
  • Page: 230
  • First Published: March 1991

Clinical and biochemical findings in parents of children with vitamin D-dependent rickets type II

I. Yokota,  E. Takeda,  M. Ito,  H. Kobashi,  T. Saijo,  Y. Kuroda, 
  • Pages: 231-240
  • First Published: 02 May 1990

Neutral lipid storage disease with ichthyosis: Serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages

R. Bergman,  M. Aviram,  O. Bitterman-Deutsch,  Y. Oiknine,  A. Shemer,  A. Srebnik,  J. G. Brook,  R. Friedman-Birnbaum, 
  • Pages: 241-246
  • First Published: 13 June 1990

Determination of serum apolipoprotein B by competitive enzyme-linked immunoassay

H. Reisinger,  W. Strobl,  B. Hubrich,  K. Widhalm, 
  • Pages: 247-252
  • First Published: 26 April 1988

Fruits and vegetables are a source of galactose: Implications in planning the diets of patients with Galactosaemia

K. C. Gross,  P. B. Acosta, 
  • Pages: 253-258
  • First Published: 27 July 1990

Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis

I. Tavares de Almeida,  M. Duran,  M. F. B. Silva,  R. Portela,  A. Cabral,  T. Tasso,  F. Eusébio,  C. Silveira, 
  • Pages: 259-262
  • First Published: 27 July 1990

Case Report

d-Glyceric acidaemia: clinical report and biochemical studies in a patient

C. Largillière,  E. Van Schaftingen,  M. Fontaine,  J. P. Farriaux, 
  • Pages: 263-264
  • First Published: 01 March 1991

Mevalonic aciduria

V. Kožich,  K. M. Gibson,  J. Zeman,  J. Němeček,  G. F. Hoffman,  F. Pehal,  J. Hyánek,  A. Grosmanová,  P. Verner, 
  • Pages: 265-266
  • First Published: March 1991

Canavan disease: findings in four new cases

H. Michelakakis,  S. Giouroukos,  P. Divry,  E. Katsarou,  M. O. Rolland,  A. Skardoutsou, 
  • Pages: 267-268
  • First Published: March 1991

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes

H. D. Bakker,  J. A. J. M. Taminiau,  J. E. T. van den Berg,  R. Berger, 
  • Pages: 269-270
  • First Published: 01 March 1991

Short Report

Bone marrow transplantation in Lesch-Nyhan disease

W. Endres,  M. Helmig,  Y. S. Shin,  E. Albert,  R. Wank,  H. Ibel,  M. Weiss,  H. -B. Hadorn,  R. Hass, 
  • Pages: 270-271
  • First Published: March 1991