Microphotometric analysis of NADH‐tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy (Englisch)
- Neue Suche nach: Malik, S.
- Neue Suche nach: Sudoyo, H.
- Neue Suche nach: Marzuki, S.
- Neue Suche nach: Malik, S.
- Neue Suche nach: Sudoyo, H.
- Neue Suche nach: Marzuki, S.
In:
Journal of Inherited Metabolic Disease
;
23
, 7
;
730-744
;
2000
- Aufsatz (Zeitschrift) / Elektronische Ressource
-
Titel:Microphotometric analysis of NADH‐tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy
-
Beteiligte:
-
Erschienen in:Journal of Inherited Metabolic Disease ; 23, 7 ; 730-744
-
Verlag:
- Neue Suche nach: Kluwer Academic Publishers
-
Erscheinungsdatum:01.11.2000
-
Format / Umfang:15 pages
-
ISSN:
-
DOI:
-
Medientyp:Aufsatz (Zeitschrift)
-
Format:Elektronische Ressource
-
Sprache:Englisch
-
Datenquelle:
Inhaltsverzeichnis – Band 23, Ausgabe 7
Zeige alle Jahrgänge und Ausgaben
Die Inhaltsverzeichnisse werden automatisch erzeugt und basieren auf den im Index des TIB-Portals verfügbaren Einzelnachweisen der enthaltenen Beiträge. Die Anzeige der Inhaltsverzeichnisse kann daher unvollständig oder lückenhaft sein.
- 641
-
Erythropoietic and hepatic porphyriasGross, U. / Hoffmann, G. F. / Doss, M. O. et al. | 2000
- 662
-
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infantsRiudor, E. / Arranz, J. A. / Rodés, M. / Rubio, V. / Sentís, M. / Burlina, A. B. et al. | 2000
- 669
-
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutationsGenet, S. / Cranston, T. / Middleton‐Price, H. R. et al. | 2000
- 677
-
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemiaWilson, C. J. / Van Wyk, K. G. / Leonard, J. V. / Clayton, P. T. et al. | 2000
- 683
-
High plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine diseaseSkladal, D. / Grissenauer, G. / Konstantopoulou, V. / Felker, S. / Sperl, W. et al. | 2000
- 684
-
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N‐acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan diseaseBaslow, M. H. / Suckow, R. F. / Hungund, B. L. et al. | 2000
- 693
-
Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose‐6‐phosphate dehydrogenase deficiency in neonatesLin, S.‐Y. / Niu, D.‐M. / Li, M.‐J. / Tu, C.‐P. / Lin, H.‐L. et al. | 2000
- 705
-
A serine/alanine polymorphism in the nucleotide‐binding fold‐2 of the sulphonylurea receptor‐1 (S1369A) is associated with enhanced glucose‐induced insulin secretion during pregnancyKrugluger, W. / Festa, A. / Shnawa, N. / Bucher, J. / Boltz‐Nitulescu, G. / Schernthaner, G. / Hopmeier, P. et al. | 2000
- 713
-
Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemiaWohlers, T. M. / Fridovich‐Keil, J. L. et al. | 2000
- 730
-
Microphotometric analysis of NADH‐tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathyMalik, S. / Sudoyo, H. / Marzuki, S. et al. | 2000
- 745
-
Quantitative measurement of total and free 3‐hydroxy fatty acids in serum or plasma samples: short‐chain 3‐hydroxy fatty acids are not esterifiedJones, P. M. / Burlina, A. B. / Bennett, M. J. et al. | 2000
- 751
-
A new case of 2‐methylacetoacetyl‐CoA thiolase deficiency?Renom, G. / Fontaine, M. / Rolland, M. O. / Duprey, J. / Degand, P. M. / Dobbelaere, D. et al. | 2000
- 753
-
Early onset of complete heart block in Pearson syndromeRahman, S. / Leonard, J. V. et al. | 2000
- 755
-
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletionPoggi, G. M. / Lamantea, E. / Ciani, F. / Donati, M. A. / Carrara, F. / Bartalena, L. / Garavaglia, B. / Zammarchi, E. et al. | 2000
- 757
-
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnanciesManning, N. J. / Olpin, S. E. / Pollitt, R. J. / Downing, M. / Heeley, A. F. / Young, I. D. et al. | 2000
- 760
-
Hyperketonaemia in glycerol kinase deficiencySjarif, D. R. / Dorland, L. / Sperl, W. / de Koning, T. J. / Beemer, F. A. / Poll‐The, B. T. / Duran, M. et al. | 2000