Results
|
|
501.
|
|
|
|
502.
|
|
|
|
503.
|
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark. [electronic resource] by
- Borch, Luise
- Lund, Allan Meldgaard
- Wibrand, Flemming
- Christensen, Ernst
- Søndergaard, Charlotte
- Gahrn, Birthe
- Hougaard, David Michael
- Andresen, Brage Storstein
- Gregersen, Niels
- Olsen, Rikke Katrine Jentoft
Producer: 20130225
In:
JIMD reports vol. 3
Availability: No items available.
|
|
|
504.
|
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency. [electronic resource] by
- Barth, M
- Serre, V
- Hubert, L
- Chaabouni, Y
- Bahi-Buisson, N
- Cadoudal, M
- Rabier, D
- Tich, S Nguyen The
- Ribeiro, M
- Ricquier, D
- Munnich, A
- Bonneau, D
- de Lonlay, P
- Christa, L
Producer: 20130225
In:
JIMD reports vol. 3
Availability: No items available.
|
|
|
505.
|
|
|
|
506.
|
|
|
|
507.
|
|
|
|
508.
|
|
|
|
509.
|
Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)). [electronic resource] by
- Thiele, A G
- Weigel, J F
- Ziesch, B
- Rohde, C
- Mütze, U
- Ceglarek, U
- Thiery, J
- Müller, A S
- Kiess, W
- Beblo, S
Producer: 20130225
In:
JIMD reports vol. 9
Availability: No items available.
|
|
|
510.
|
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S. [electronic resource] by
- Djordjevic, Maja
- Klaassen, Kristel
- Sarajlija, Adrijan
- Tosic, Natasa
- Zukic, Branka
- Kecman, Bozica
- Ugrin, Milena
- Spasovski, Vesna
- Pavlovic, Sonja
- Stojiljkovic, Maja
Producer: 20130225
In:
JIMD reports vol. 9
Availability: No items available.
|
|
|
511.
|
|
|
|
512.
|
|
|
|
513.
|
|
|
|
514.
|
|
|
|
515.
|
|
|
|
516.
|
|
|
|
517.
|
|
|
|
518.
|
|
|
|
519.
|
|
|
|
520.
|
|