Volume 31; Issue 3

Journal of Inherited Metabolic Disease

Volume 31; Issue 3

1

Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency

D. Li, N. Karp, Q. Wu, X-L. Wang, S. Melnyk, S. J. James, R. Rozen

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 1.62 MB

english, 2008

2

Glucose-6-phosphate dehydrogenase deficiency protects against coronary heart disease

L. Meloni, M. R. Manca, I. Loddo, G. Cioglia, P. Cocco, A. Schwartz, S. Muntoni, Sa. Muntoni

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 312 KB

english, 2008

3

Genetic variants of transferrin in cystic fibrosis

E. Marklová, Z. Albahri, H. Vaníček, P. Dědek, M. Vališ, M. Kopáčová, V. Vávrová

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 314 KB

english, 2008

4

Reduced carbohydrate intake in citrin-deficient subjects

T. Saheki, K. Kobayashi, M. Terashi, T. Ohura, Y. Yanagawa, Y. Okano, T. Hattori, H. Fujimoto, K. Mutoh, Z. Kizaki, A. Inui

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 315 KB

english, 2008

5

Leukoencephalopathies associated with inborn errors of metabolism in adults

F. Sedel, A. Tourbah, B. Fontaine, C. Lubetzki, N. Baumann, J.-M. Saudubray, O. Lyon-Caen

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 1.71 MB

english, 2008

6

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

T. M. Cox, J. M. F. G. Aerts, N. Belmatoug, M. D. Cappellini, S. vom Dahl, J. Goldblatt, G. A. Grabowski, C. E. M. Hollak, P. Hwu, M. Maas, A. M. Martins, P. K. Mistry, G. M. Pastores, A. Tylki-Szyman

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 505 KB

english, 2008

7

The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’

S. Scholl-Bürgi, S. H. Korman, D. A. Applegarth, D. Karall, Y. Lillquist, P. Heinz-Erian, A. G. F. Davidson, E. Haberlandt, J. O. Sass

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 243 KB

english, 2008

8

Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia

I. Harting, A. Seitz, S. Geb, T. Zwickler, L. Porto, M. Lindner, S. Kölker, F. Hörster

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 1.95 MB

english, 2008

9

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

T. Zwickler, M. Lindner, H. I. Aydin, M. R. Baumgartner, O. A. Bodamer, A. B. Burlina, A. M. Das, J. B. C. deKlerk, G. Gökcay, S. Grünewald, N. Guffon, E. M. Maier, E. Morava, S. Geb, B. Schwahn, J. H

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 254 KB

english, 2008

10

Renal tubular function in children with tyrosinaemia type I treated with nitisinone

S. Santra, M. A. Preece, S.-A. Hulton, P. J. McKiernan

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 233 KB

english, 2008

11

Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI

M. M. Sleeper, C. M. Kusiak, F. S. Shofer, P. O’Donnell, C. Bryan, K. P. Ponder, M. E. Haskins

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 629 KB

english, 2008

12

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

É. Morava, H. Wosik, J. Kárteszi, M. Guillard, M. Adamowicz, J. Sykut-Cegielska, K. Hadzsiev, R. A. Wevers, D. J. Lefeber

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 263 KB

english, 2008

13

Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit

H. R. Mundy, J. E. Williams, P. J. Lee, M. S. Fewtrell

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 251 KB

english, 2008

14

‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature

M. Biegstraaten, I. N. van Schaik, J. M. F. G. Aerts, C. E. M. Hollak

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 371 KB

english, 2008

15

Causes of and diagnostic approach to methylmalonic acidurias

B. Fowler, J. V. Leonard, M. R. Baumgartner

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 374 KB

english, 2008

16

Twenty-four-month α-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters

J. W. Koskenvuo, J. J. Hartiala, P. Nuutila, R. Kalliokoski, J. S. Viikari, E. Engblom, M. Penttinen, J. Knuuti, I. Mononen, I. M. Kantola

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 339 KB

english, 2008

17

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

F. Sedel, J.-M. Saudubray, E. Roze, Y. Agid, M. Vidailhet

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 351 KB

english, 2008

18

Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid β-oxidation

M. Morita, M. Kanai, S. Mizuno, M. Iwashima, T. Hayashi, N. Shimozawa, Y. Suzuki, T. Imanaka

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 433 KB

english, 2008

19

Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination

M. Lindner, S. Ho, S. Kölker, G. Abdoh, G. F. Hoffmann, P. Burgard

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 435 KB

english, 2008

20

Methylmalonic aciduria: current faces of a “classical” organic aciduria

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 156 KB

english, 2008

21

Neonatal screening in Europe; the situation in 2004

J. Gerard Loeber

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

File:

PDF, 111 KB

2008

22

Bilateral blurred vision and low HDL in a 69-year-old man

Gool, S., Foets, B., Geest, B., Cassiman, D., Knockaert, D.

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008