Volume 15; Issue 3

Journal of Inherited Metabolic Disease

Volume 15; Issue 3

1

Preface

G. M. Addison, G. T. N. Besley, R. A. Harkness, R. J. Pollitt

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 48 KB

english, 1992

2

Free communications

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 437 KB

english, 1992

3

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 228 KB

english, 1992

4

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 368 KB

english, 1992

5

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 233 KB

english, 1992

6

Mitochondrial abnormalities in the DIDMOAD syndrome

S. Bundey, K. Poulton, H. Whitwell, E. Curtis, I. A. R. Brown, A. R. Fielder

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 790 KB

english, 1992

7

Unusual clinical presentation in two boys with cytochromecoxidase deficiency

M. Hrebíček, J. Zeman, B. Petrák, V. Kožich, J. Hyánek, J. P. N. Ruiter, R. J. A. Wanders, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 190 KB

english, 1992

8

Fatal cytochromecoxidase-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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 534 KB

english, 1992

9

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

K. E. Baerlocher, A. Feldges, M. Weissert, H. J. Simonsz, A. Rötig

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 284 KB

english, 1992

10

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 225 KB

english, 1992

11

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 247 KB

english, 1992

12

Screening for mutations in the gene encoding factor IX

L. R. Nielsen, M. Schwartz, E. Scheibel

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 181 KB

english, 1992

13

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 398 KB

english, 1992

14

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.

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 348 KB

english, 1992

15

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 157 KB

english, 1992

16

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

R. J. A. Wanders, L. Ijlst

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 171 KB

english, 1992

17

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

O. Søvik, J. -M. Saudubray, A. Munnich, L. Sweetman

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 200 KB

english, 1992

18

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

K. M. Gibson, C. F. Lee, R. S. Wappner

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 214 KB

english, 1992

19

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 220 KB

english, 1992

20

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 176 KB

english, 1992

21

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 185 KB

english, 1992

22

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 222 KB

english, 1992

23

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 237 KB

english, 1992

24

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 219 KB

english, 1992

25

Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

R. J. A. Wanders, H. Schumacher, J. Heikoop, R. B. H. Schutgens, J. M. Tager

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 170 KB

english, 1992

26

Prenatal diagnosis of canavan disease

R. Matalon, K. Michals, P. Gashkoff, R. Kaul

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 165 KB

english, 1992

27

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 371 KB

english, 1992

28

Tryptophan therapy for non-ketotic hyperglycinaemia

F. Inoue, S. Matsuo, H. Yoshioka, Y. Takeuchi, H. Yamanaka, N. Kodo, A. Kinugasa, T. Sawada

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 158 KB

english, 1992

29

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 189 KB

english, 1992

30

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 241 KB

english, 1992

31

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

N. Blau, L. Kierat, H. -Ch. Curtius, M. Blaskovics, T. Giudici

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 290 KB

english, 1992

32

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 137 KB

english, 1992

33

Adenylosuccinase deficiency: A newly recognized variant

J. Jaeken, F. Van Den Bergh, M. F. Vincent, P. Casaer, G. Van den Berghe

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 171 KB

english, 1992

34

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 197 KB

english, 1992

35

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 161 KB

english, 1992

36

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 444 KB

english, 1992

37

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

J. W. T. Seakins, M. Hjelm, K. J. Wang

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 236 KB

english, 1992