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Subject 616.39042

1. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype. Issue 3 (20th March 2019)

Authors:
Stence, Nicholas V.; Fenton, Laura Z.; Levek, Claire; Tong, Suhong; Coughlin, Curtis R.; Hennermann, Julia B.; Wortmann, Saskia B.; Van Hove, Johan L.K.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
438
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia. Issue 3 (27th February 2019)

Authors:
Kuiper, Anouk; Grünewald, Stephanie; Murphy, Elaine; Coenen, Maraike A.; Eggink, Hendriekje; Zutt, Rodi; Rubio‐Gozalbo, Maria E.; Bosch, Annet M.; Williams, Monique; Derks, Terry G. J.; Lachmann, Robin H. L.; Brouwers, Martijn C. G. J.; Janssen, Mirian C. H.; Tijssen, Marina A.; de Koning, Tom J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
451
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria. Issue 3 (1st February 2019)

Authors:
Pilotto, Andrea; Blau, Nenad; Leks, Edytha; Schulte, Claudia; Deuschl, Christian; Zipser, Carl; Piel, David; Freisinger, Peter; Gramer, Gwendolyn; Kölker, Stefan; Haas, Dorothea; Burgard, Peter; Nawroth, Peter; Georg, Hoffmann; Scheffler, Klaus; Berg, Daniela; Trefz, Friedrich
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
398
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening. Issue 3 (11th March 2019)

Authors:
Wempe, Michael F.; Kumar, Amit; Kumar, Vijay; Choi, Yu J.; Swanson, Michael A.; Friederich, Marisa W.; Hyland, Keith; Yue, Wyatt W.; Van Hove, Johan L. K.; Coughlin, Curtis R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
565
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Long‐term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series. Issue 5 (5th March 2014)

Authors:
Lampe, Christina; Bosserhoff, Ann‐Kathrin; Burton, Barbara K.; Giugliani, Roberto; de Souza, Carolina F.; Bittar, Camila; Muschol, Nicole; Olson, Rebecca; Mendelsohn, Nancy J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
823
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium‐chain acyl‐CoA dehydrogenase deficiency. Issue 5 (13th March 2014)

Authors:
Derks, Terry G. J.; Touw, Catharina M. L.; Ribas, Graziela S.; Biancini, Giovana B.; Vanzin, Camila S.; Negretto, Giovanna; Mescka, Caroline P.; Reijngoud, Dirk Jan; Smit, G. Peter A.; Wajner, Moacir; Vargas, Carmen R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
783
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗