Volume 17; Issue 3

Journal of Inherited Metabolic Disease

Volume 17; Issue 3

1

Preface

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 55 KB

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2

Free communications

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 413 KB

english, 1994

3

Impaired metabolism of leukotrienes in inherited metabolic disorders

E. Mayatepek, G. F. Hoffmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 218 KB

english, 1994

4

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Z. Tümer, T. Tønnesen, N. Horn

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 225 KB

english, 1994

5

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

M. Brivet, A. Slama, H. Ogier, A. Boutron, F. Demaugre, J. M. Saudubray, A. Lemonnier

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 233 KB

english, 1994

6

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

B. S. Andresen, P. Bross, I. Knudsen, V. Winter, S. Kølvraa, L. Bolund, N. Gregersen

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 321 KB

english, 1994

7

Prenatal diagnosis of a defect in mediumchain fatty acid oxidation

R. J. Pollitt, N. J. Manning, S. E. Olpin, I. D. Young

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 240 KB

english, 1994

8

Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

M. J. Bennett, M. J. Weinberger, W. G. Sherwood, A. B. Burlina

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 231 KB

english, 1994

9

The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family

E. Christensen, N. J. Brandt, T. Rosenberg, K. Bömers, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 254 KB

english, 1994

10

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

K. M. Gibson, S. B. Cassidy, L. H. Seaver, R. J. A. Wanders, N. G. Kennaway, G. A. Mitchell, R. P. Spark

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 526 KB

english, 1994

11

Canavan disease: Molecular basis of aspartoacylase deficiency

R. Kaul, G. P. Gao, K. Balamurugan, R. Matalon

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 275 KB

english, 1994

12

Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion

A. Luder, V. Barash

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 129 KB

english, 1994

13

Muscle cytochromecoxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

B. Garavaglia, V. Colamaria, F. Carrara, P. Tonin, M. Rimoldi, G. Uziel

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 198 KB

english, 1994

14

Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: A new method with potential for prenatal diagnosis

R. J. A. Wanders, J. P. N. Ruiter, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 148 KB

english, 1994

15

Polarographic studies of saponin-skinned muscle fibres in patients with mitochondrial myopathies

W. Sperl, D. Skladal, N. Lanznaster, R. Schranzhofer, G. Zaunschirm, E. Gnaiger, E. Plöchl, F. Gellerich

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 210 KB

english, 1994

16

Searching for mutations in the arylsulphatase A gene

M. B. Salamon, E. Christensen, M. Schwartz

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 296 KB

english, 1994

17

Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder

R. J. A. Wanders, C. Dekker, V. A. P. Hovarth, R. B. H. Schutgens, J. M. Tager, P. Laer, D. Lecoutere

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 203 KB

english, 1994

18

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

R. B. H. Schutgens, R. J. A. Wanders, C. Jakobs, M. Arslan-Kirchner, K. Miller, P. Wieacker, D. Hunnemann, P. Hurter, M. Schutz

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 208 KB

english, 1994

19

Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders

S. J. Steinberg, A. H. Fensom, N. R. Dalton, P. A. Toseland, C. R. Kennedy, A. P. Mowat

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 239 KB

english, 1994

20

Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins

J. Gärtner, C. Obie, P. Watkins, D. Valle

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 167 KB

english, 1994

21

Structural anomalies in patients with inherited metabolic diseases

F. J. Bamforth, J. S. Bamforth, D. A. Applegarth

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 120 KB

english, 1994

22

Fructose-1,6-bisphosphatase deficiency: Severe phenotype with normal leukocyte enzyme activity

G. T. N. Besley, J. H. Walter, M. A. Lewis, C. R. Chard, G. M. Addison

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 158 KB

english, 1994

23

Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine: Glyoxylate aminotransferase

V. A. P. Horváth, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 162 KB

english, 1994

24

Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis

N. G. G. M. Abeling, A. H. Gennip, H. Overmars, B. A. Oost, H. G. Brunner

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 139 KB

english, 1994

25

Prenatal diagnosis of non-ketotic hyperglycinaemia: Experience in 50 at-risk pregnancies

J. R. Toone, D. A. Applegarth, H. L. Levy

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 176 KB

english, 1994

26

Immune function in prolidase deficiency

M. A. Cleary, M. Heaney, J. M. Couriel, J. H. Walter

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 188 KB

english, 1994

27

Effect ofl-DOPA on pattern visual evoked potentials (P-100) and neuropsychological tests in untreated adult patients with phenylketonuria

K. Ullrich, J. Weglage, C. Oberwittler, M. Pietsch, B. Fünders, H. Eckhardstein, J. P. Colombo

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 215 KB

english, 1994

28

Maternal PKU Collaborative Study: Pregnancy outcome and postnatal head growth

R. Matalon, K. Michals, C. Azen, E. Friedman, R. Koch, B. Rouse, W. B. Hanley, F. Cruz

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 194 KB

english, 1994

29

Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA

R. Kaul, R. Matalon, R. Allen, R. O. Fisch, K. Michals, A. Petrosky, D. Sullivan

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 193 KB

english, 1994

30

Mutation screening versus gene scanning for genotyping phenylketonuria patients

P. Guldberg, F. Güttler

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 189 KB

english, 1994

31

Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders

U. Lichter-Konecki, A. Rupp, D. S. Konecki, F. K. Trefz, H. Schmidt, P. Burgard

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 234 KB

english, 1994

32

Phenotype distribution in the Spanish phenylketonuria population and related genotypes

M. Martínez-Pardo, A. R. Colmenares, M. J. García, B. Pérez, L. R. Desviat, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 148 KB

english, 1994

33

Heterogeneity of phenylketonuria in Belgium at the genotype-phenotype level

B. Francois, C. Vandevyver, P Verelst, L. Phillippaert, J. Raus

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 130 KB

english, 1994

34

Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria

İ. Özalp, T. Coskun, M. Özgüc, A. Tokatlı, K. Yalaz, L. Vanlı, E. Yılmaz, A. Erbay

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 69 KB

english, 1994

35

Cognitive development related to metabolic phenotype and mutation genotype in 25 Hungarian patients with phenylketonuria

A. Schuler, Cs. Somogyi, M. Máté, L. Pataki, I. Törös, S. L. C. Woo, R. C. Eisensmith, Gy. Fekete

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 56 KB

english, 1994

36

Association between mutations and the variable number tandem repeat alleles in a sample of Turkish phenylketonuria patients

M. Özgüc, E. Yılmaz, H. Erdem, T. Coskun, A. Tokatlı, İ. Özalp

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 134 KB

english, 1994

37

Genotype-phenotype correlation in 11 Romanian PKU families

A. Popescu, T. Andrian, F. Güttler, P. Guldberg

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 97 KB

english, 1994

38

Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe

I. Barić, D. Mardešić, V. Sarnavøka, U. Lichter-Konecki, D. S. Konecki, F. K. Trefz

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 124 KB

english, 1994

39

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

B. Pérez, L. R. Desviat, M. J. García, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994