Volume 13; Issue 3

Journal of Inherited Metabolic Disease

Volume 13; Issue 3

1

Preface to short communications

G. M. Addison, R. A. Harkness, R. J. Pollitt

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 56 KB

english, 1990

2

Free communications

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 510 KB

english, 1990

3

Diagnosis of a novel glycogen storage disease: Type 1aSP

A. Burchell, I. D. Waddell

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 266 KB

english, 1990

4

Possible diagnosis of type 1b glycogen storage disease using frozen liver biopsies

I. Maire, M. Mathieu

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 156 KB

english, 1990

5

Uptake and transport of hexoses into polymorphonuclear leukocytes of patients with glycogen storage disease type 1b

N. Bashan, R. Potashnik, N. Peleg, A. Moran, S. W. Moses

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 255 KB

english, 1990

6

Perinatal expression of elevated hepatic protein phosphatase type 1 activity levels

A. Burchell, W. J. Arion, I. I. Smith, R. Hume

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 285 KB

english, 1990

7

Announcement

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 59 KB

english, 1990

8

Variability of renal length in type I glycogen storage disease

Y. -T. Chen, K. A. Feinstein, R. A. Coleman, E. L. Effmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 271 KB

english, 1990

9

Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency

A. B. Burlina, M. Poletto, Y. S. Shin, F. Zacchello

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 202 KB

english, 1990

10

Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma

H. Mandel, D. Gozal, A. Aizin, S. Tavori, M. Jaffe

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 236 KB

english, 1990

11

Galactosaemia: Sensitive bioluminescent assays for galactose and red cell galactose-1-phosphate

R. G. Wilson, P. R. Riordan, P. E. Hartmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 212 KB

english, 1990

12

Novel storage products in humanβ-mannosidosis

C. H. Hokke, M. Duran, L. Dorland, J. van Pelt, F. J. van Sprang

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 258 KB

english, 1990

13

Direct transferin vitroofα-d-mannosidase activity from normal lymphocytes to fibroblasts of a patient withα-mannosidosis

M. Margollicci, G. Bartalini, P. Balestri, A. Fois

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 247 KB

english, 1990

14

A case of the B1 variant of GM2-gangliosidosis

R. G. F. Gray, A. Green, L. Rabb, D. M. Broadhead, G. T. N. Besley

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 214 KB

english, 1990

15

α-glucosidase deficiency in a child

R. D. Griffiths, D. Heaf, A. Cooper, I. B. Sardharwalla

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 129 KB

english, 1990

16

Colorimetric determination of sulphatide in cultured fibroblasts from patients with various types of metachromatic leukodystrophy after sulphatide loading test

U. N. Wiesmann, T. Burkhart, J. von Känel, T. Toennesen, R. Ghidoni

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 304 KB

english, 1990

17

Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations

B. Rouse, L. Lockhart, R. Matalon, C. Azen, R. Koch, W. Hanley, H. Levy, F. dela Cruz, E. Friedman

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 187 KB

english, 1990

18

Haplotype distribution and molecular defects of PKU in Italy

I. Dianzani, C. Camaschella, G. Saglio, G. B. Ferrero, G. Romeo, M. Devoto, C. Romano, R. Cerone, M. Giovannini, E. Riva, F. K. Trefz, U. Lichter-Konecki, S. L. C. Woo

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 204 KB

english, 1990

19

Phenylketonuria in turkey: Experience with an enzymatic colorimetric test for measurement of serum phenylalanine

U. Wendel, I. Özalp, U. Langenbeck, W. Hummel

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 176 KB

english, 1990

20

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

A. Ponzone, N. Blau, O. Guardamagna, G. B. Ferrero, I. Dianzani, W. Endres

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 241 KB

english, 1990

21

Aromatic amino acid decarboxylase deficiency in twins

K. Hyland, P. T. Clayton

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 262 KB

english, 1990

22

Tyrosinaemia type I with normal levels of plasma tyrosine

I. Tavares de Almeida, P. P. Leandro, M. F. B. Silva, C. Silveira, A. Da Silva, J. Salazar de Sousa, M. Duran

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 248 KB

english, 1990

23

Rett's syndrome and ornithine carbamoyltransferase deficiency

K. H. Carpenter, J. R. Bonham, A. Clarke

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 163 KB

english, 1990

24

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ-oxidation

R. J. A. Wanders, L. Ijlst, A. H. van Gennip, C. Jakobs, J. P. de Jager, L. Dorland, F. J. van Sprang, M. Duran

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 321 KB

english, 1990

25

The detection of abnormal metabolites in MCAD deficiency: a new method

W. Blom, A. C. Polder-Mol, H. H. Kelholt-Dijkman, L. Hierck, J. G. M. Huijmans

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 440 KB

english, 1990

26

Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

D. S. Millington, N. Kodo, D. L. Norwood, C. R. Roe

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 270 KB

english, 1990

27

Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-coa dehydrogenase deficiency

R. Moore, D. S. Millington, D. Norwood, N. Kodo, P. Robinson, J. F. T. Glasgow

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 362 KB

english, 1990

28

Sudden infant death syndrome: Organic acid profiles in cerebrospinal fluid from 47 children and the occurrence ofN-acetylaspartic acid

P. Divry, C. Vianey-Liaud, C. Jakobs, H. J. Ten-Brink, J. Dutruge, R. Gilly

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 210 KB

english, 1990

29

Acquired deficiency of long-chain acyl-CoA dehydrogenase in liver: a cautionary tale

F. Allison, M. J. Bennett, R. J. Pollitt, S. Variend

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 257 KB

english, 1990

30

The first adult case with 4-hydroxybutyric aciduria

C. Jakobs, L. M. E. Smit, J. Kneer, T. Michael, K. M. Gibson

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 259 KB

english, 1990

31

Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid

M. O. Rolland, P. Divry, G. Mandon, P. Guibaud, M. Mathieu, G. Sournies, J. M. Thoulon

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 237 KB

english, 1990

32

A simple isotopic technique for assessing vitamin responsivenessin vivoin propionic acidaemia

G. N. Thompson, J. -L. Bresson, J. -P. Bonnefont, J. H. Walter, M. A. Read, J. -M. Saudubray, J. V. Leonard, D. Halliday

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 243 KB

english, 1990

33

Vigabatrin in the treatment of glutaric aciduria type I

B. Francois, J. Jaeken, P. Gillis

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 169 KB

english, 1990

34

Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

F. A. Wijburg, N. Feller, W. Ruitenbeek, J. M. F. Trijbels, R. C. A. Sengers, H. R. Scholte, H. Przyrembel, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 283 KB

english, 1990

35

Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies

W. Sperl, W. Ruitenbeek, J. M. F. Trijbels, G. C. Korenke, R. C. A. Sengers

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 292 KB

english, 1990

36

A new peroxisomal disorder: Di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency

E. Christensen, J. Van Eldere, N. J. Brandt, R. B. H. Schutgens, R. J. A. Wanders, H. J. Eyssen

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 284 KB

english, 1990

37

Di- and trihydroxycholestanoic acidaemia with hepatic failure

H. Przyrembel, R. J. A. Wanders, C. W. T. van Roermund, R. B. H. Schutgens, G. P. Mannaerts, M. Casteels

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 296 KB

english, 1990

38

First prenatal diagnosis of acyl-CoA oxidase deficiency

R. J. A. Wanders, A. Schelen, N. Feller, R. B. H. Schutgens, F. Stellaard, C. Jakobs, B. Mitulla, G. Seidlitz

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 289 KB

english, 1990

39

A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β-oxidation enzyme activities

R. J. A. Wanders, C. W. T. van Roermund, A. Schelen, R. B. H. Schutgens, J. M. Tager, J. B. P. Stephenson, P. T. Clayton

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 357 KB

english, 1990

40

Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester

R. G. F. Gray, A. Green, R. B. H. Schutgens, R. J. A. Wanders, P. A. Farndon, C. R. Kennedy

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 212 KB

english, 1990

41

Study of peroxisomal proteins in patients with zellweger syndrome

J. Gärtner, A. Balfe, W. W. Chen, H. W. Moser

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 528 KB

english, 1990

42

Metabolism of branched chain fatty acids in peroxisomal disorders

H. Singh, S. Usher, D. Johnson, A. Poulos

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 200 KB

english, 1990

43

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia

G. F. Hoffmann, D. H. Hunneman, C. Jakobs, E. Wilichowski, S. W. Eber, F. Hanefeld, D. Rating, H. Reichmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 320 KB

english, 1990

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