Volume 18; Issue 2

Journal of Inherited Metabolic Disease

Volume 18; Issue 2

1

Preface

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 54 KB

english, 1995

2

Free communications

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 446 KB

english, 1995

3

Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation

F. J. Spronsen, G. P. A. Smit, F. A. Wijburg, Y. Thomasse, G. Visser, H. S. A. Heymans

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 248 KB

english, 1995

4

Liver transplantation in tyrosinaemia type I: the Groningen experience

F. A. Wijburg, W. Ch. C. Reitsma, M. J. H. Slooff, F. J. Spronsen, H. A. Koetse, D. J. Reijngoud, G. P. A. Smit, R. Berger, C. M. A. Bijleveld

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 223 KB

english, 1995

5

Liver transplantation in nine Spanish patients with tyrosinaemia type I

C. Pérez-Cerdá, B. Merinero, P. Sanz, M. Castro, J. Gangoiti, M. J. García, M. Díaz, E. Medina, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 196 KB

english, 1995

6

Plasma antioxidant capacity in two cases of tyrosinaemia type 1: one case treated with NTBC

S. Bird, N. J. Miller, J. E. Collins, C. A. Rice-Evans

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 189 KB

english, 1995

7

Nutritional value of essential amino acids in the treatment of adults with phenylketonuria

H. Dotremont, B. François, M. Diels, P. Gillis

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 242 KB

english, 1995

8

Improvements in behaviour and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine-restricted diet: a national survey

S. Yannicelli, A. Ryan

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 230 KB

english, 1995

9

Physical growth in patients with phenylketonuria

J. L. Dhondt, C. Largillière, L. Moreno, J. P. Farriaux

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 146 KB

english, 1995

10

Long-term follow-up of 77 patients with isolated methylamalonic acidaemia

E. R. Baumgarter, C. Viardot

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 295 KB

english, 1995

11

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency

K. M. Gibson, C. Jakobs, H. Ogier, L. Hagenfeldt, K. Edebol Eeg-Olofsson, O. Eeg-Olofsson, F. Aksu, H. -P. Weber, E. Rossier, B. Vollmer, W. Lehnert

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 220 KB

english, 1995

12

Biochemical follow-up in late-treated nephropathic cystinosis

M. A. Vilaseca, J. A. Camacho, P. Briones, C. Farré, A. Mas

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 195 KB

english, 1995

13

Galactosaemia: relationship of IQ to biochemical control and genotype

M. A. Cleary, L. E. Heptinstall, J. E. Wraith, J. H. Walter

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 113 KB

english, 1995

14

Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch

P. J. Lee, W. G. Hoff, J. V. Leonard

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 230 KB

english, 1995

15

Case report: Four-year follow-up of bone-marrow transplantation in late juvenile metachromatic leukodystrophy

C. Navarro, C. Domínguez, J. M. Fernández, C. Fachal, M. Alvárez

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 119 KB

english, 1995

16

Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation

N. Guffon, G. Souillet, I. Maire, C. Dorche, M. Mathieu, P. Guibaud

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 146 KB

english, 1995

17

Defective neutrophil activity in fructose-1,6-diphosphatase deficiency

G. Biasucci, M. Gigliotti, D. Luotti, B. Bertagnolio, E. Riva

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 205 KB

english, 1995

18

Immunosuppressive effects of organic acids accumulating in patients with maple syrup urine disease

M. Wajner, J. L. Schlottfeldt, K. Ckless, C. M. D. Wannmacher

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 224 KB

english, 1995

19

Acute pancreatitis in propionic acidaemia

A. B. Burlina, C. Dionisi-Vici, S. Piovan, I. Saponara, A. Bartuli, G. Sabetta, F. Zacchello

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 223 KB

english, 1995

20

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency

G. F. Hoffmann, H. J. Böhles, A. Burlina, M. Duran, J. Herwig, W. Lehnert, J. V. Leonard, A. Muntau, F. K. Plecko-Starting, A. Superti-Furga, F. K. Trefz, E. Christensen

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 224 KB

english, 1995

21

Folinic acid responsive seizures: a new syndrome?

K. Hyland, N. R. M. Buist, B. R. Powell, G. F. Hoffman, D. Rating, J. McGrath, I. N. Acworth

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 256 KB

english, 1995

22

Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine

N. G. G. M. Abeling, A. H. Gennip, H. D. Bakker, A. Heerschap, U. Engelke, R. A. Wevers

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 120 KB

english, 1995

23

Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria

A. H. Gennip, H Lenthe, N. G. G. M. Abeling, H. D. Bakker, A. B. P. Kuilenburg

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 200 KB

english, 1995

24

Organic acids in cerebrospinal fluid and plasma of patients withl-2-hydroxyglutaric aciduria

G. F. Hoffmann, C. Jakobs, B. Holmes, L. Mitchell, G. Becker, H. -P. Hartung, W. L. Nyhan

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 280 KB

english, 1995

25

d-2-Hydroxyglutaric acidaemia: identification of a new enzyme,d-2-hydroxyglutarate dehydrogenase, localized in mitochondria

R. J. A. Wanders, P. Mooyer

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 144 KB

english, 1995

26

Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency

B. Goebel-Schreiner, R. Schreiner, G. F. Hoffmann, K. M. Gibson

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 223 KB

english, 1995

27

Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome

R. J. A. Wanders, C. W. T. Roermund, D. S. M. Schor, H. J. Brink, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 168 KB

english, 1995

28

3-Hydroxyisobutyric aciduria with a mild clinical course

O. Boulat, N. Benador, E. Girardin, C. Bachmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 147 KB

english, 1995

29

RFLPs for linkage analysis in families with glycogen storage disease type III

A. Mishori-Dery, N. Bashan, S. Moses, E. Hershkovitz, Y. Bao, Y. T. Chen, R. Parvari

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 426 KB

english, 1995

30

Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

M. P. Sperandeo, M. Panico, A. Pepe, M. Candito, R. Franchis, J. P. Kraus, G. Andria, G. Sebastio

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 342 KB

english, 1995

31

Prenatal diagnosis for Canavan disease: the use of DNA markers

R. Matalon, R. Kaul, G. P. Gao, K. Michals, R. G. F. Gray, S. Bennett-Briton, A. Norman, M. Smith, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 162 KB

english, 1995

32

DIDMOAD syndrome; further studies and muscle biochemistry

T. G. Barrett, K. Poulton, S. Bundey

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 170 KB

english, 1995

33

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria

G. T. N. Besley, M. Lendon, D. M. Broadhead, J. Till, L. E. Heptinstall, B. Phillips

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 162 KB

english, 1995

34

KBS-DIAMET: database and expert system for diagnosis and treatment of patients with inborn errors of metabolism

U. Mischke, G. Fraudendienst-Egger, P. Matthis, P. Gao, F. K. Trefz

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 159 KB

english, 1995

35

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

S. Kmoch, J. Zeman, M. Hrebíček, L. Ryba, M. J. Kristensen, N. Gregersen

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 179 KB

english, 1995

36

A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency

K. E. Niezen-Koning, F. J. Spronsen, L. Ijlst, R. J. A. Wanders, M. Brivet, M. Duran, D. J. Reijngoud, H. S. A. Heymans, G. P. A. Smit

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 149 KB

english, 1995

37

Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system

E. Christensen, J. Vikre-Jørgensen

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 227 KB

english, 1995

38

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

P. Briones, B. Garavaglia, A. Ribes, M. E. Yoldi, M. Rodés, C. Romero, F. García-Bragado

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 210 KB

english, 1995

39

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

L. Ijlst, S. Uskikubo, T. Kamijo, T. Hashimoto, J. P. N. Ruiter, J. B. C. Klerk, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 222 KB

english, 1995

40

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

L. Hagenfeldt, N. Venizelos, U. Döbeln

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 186 KB

english, 1995

41

Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria

E. Mayatepek, R. J. A. Wanders, M. Becker, H. J. Bremer, G. F. Hoffmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 249 KB

english, 1995

42

Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

C. Ged, H. Sebai, H. Verneuil, F. Parrot-Rouleau

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 231 KB

english, 1995

43

Do criteria exist from urinary organic acids to distinguish β-oxidation defects?

D. Rabier, J. Bardet, Ph. Parvy, F. Poggi, M. Brivet, J. M. Saudubray, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 226 KB

english, 1995

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски