Volume 21; Issue 1

Journal of Inherited Metabolic Disease

Volume 21; Issue 1

1

The association of protein-losing enteropathy with cobalamin C defect

C. Ellaway, J. Christodoulou, R. Kamath, K. Carpenter, B. Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 147 KB

english, 1998

2

Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria

P. Griffiths, N. Ward, A. Harvie, F. Cockburn

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 185 KB

english, 1998

3

Oligosaccharide excretion in adult Gaucher disease

J. G. N. de Jong, J. M. F. G. Aerts, S. van Weely, C. E. M. Hollak, J. van Pelt, L. M. J. van Woerkom, M. L. F. Liebrand-van Sambeek, R. A. Wevers

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 188 KB

english, 1998

4

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity

M. Staudt, B. Wermuth, P. Freisinger, A. Hässler, B. F. Pontz

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

File:

PDF, 119 KB

1998

5

Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy

D. Dobbelaere, S. Sukno, S. Defoort-Dhellemmes, M.-D. Lamblin, C. Largillière

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 106 KB

english, 1998

6

Phosphomannomutase deficiency and normal pubertal development

J. Artigas, E. Cardo, M. Pineda, R. Nosas, J. Jaeken

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 87 KB

english, 1998

7

In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations

J. Weglage, H. E. Möller, D. Wiedermann, S. Cipcic-Schmidt, J. Zschocke, K. Ullrich

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 92 KB

english, 1998

8

Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

N. Sakura, H. Ono, S. Nomura, H. Ueda, N. Fujita

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 40 KB

english, 1998

9

Pyruvate dehydrogenase complex deficiency and absence of subunit X

L. De Meirleir, W. Lissens, C. Benelli, C. Marsac, J. De Klerk, J. Scholte, O. Van Diggelen, W. Kleijer, S. Seneca, I. Liebaers

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 158 KB

english, 1998

10

Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase : 3-hydroxyacyl-CoA dehydrogenase cDNA

S. Fukuda, Y. Suzuki, N. Shimozawa, Z. Zhang, T. Orii, T. Aoyama, T. Hashimoto, N. Kondo

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 180 KB

english, 1998

11

Neonatal neurological assessment of offspring in maternal phenylketonuria

S.E. Waisbren, P. Chang, H. L. Levy, H. Shifrin, E. Allred, C. Azen, F. de la Cruz, W. Hanley, R. Koch, R. Matalon, B. Rouse

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 175 KB

english, 1998

12

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

K. Isogai, K. Sukegawa, S. Tomatsu, T. Fukao, X-Q. Song, Y. Yamada, S. Fukuda, T. Orii, N. Kondo

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 193 KB

english, 1998

13

Complex I deficiency in association with structural abnormalities of the diaphragm and brain

C. Ellaway, K. North, S. Arbuckle, J. Christodoulou

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

File:

PDF, 121 KB

1998

14

Fatal neonatal malonic aciduria

B. Buyukgebiz, C. Jakobs, H.R. Scholte, J. G. M. Huijmans, W. J. Kleijer

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 91 KB

english, 1998

15

Increased resting energy expenditure in glycogen storage disease type Ia

F. Feillet, O. A. F. Bodamer, J. V. Leonard

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 79 KB

english, 1998

16

Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 79 KB

english, 1998

17

Increased urine methylmalonic acid excretion in infants with apnoeas

R. Artuch, M. Calvo, A. Ribes, F. Camarasa, M. A. Vilaseca

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 93 KB

english, 1998

18

Functions and Biogenesis of Peroxisomes in Relation to Human Disease.

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 71 KB

english, 1998

19

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

C. Dionisi-Vici, S. Seneca, M. Zeviani, G. Fariello, M. Rimoldi, E. Bertini, L. De Meirleir

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 170 KB

english, 1998

20

Robert Guthrie - the PKU Story. Crusade Against Mental Retardation. Jean Holt Koch.

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 75 KB

english, 1998

21

Preface

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 60 KB

english, 1998

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