E-LIB Suche - Ergebnisse für: Rhead, W.

1

Glutamine and hyperammonemic crises in patients with urea c..:

Lee, B. ; Diaz, G.A. ; Rhead, W....
Molecular Genetics and Metabolism. 117 (2016) 1 - p. 27-32 , 2016

Link: https://doi.org/10.1016/..

2

Traitement à long terme par une enzymothérapie substitutive..:

Pastores, G. ; Rhead, W. ; Charrow, J....
La Revue de Médecine Interne. 36 (2015) - p. A107-A108 , 2015

Link: https://doi.org/10.1016/..

3

Efficacité et tolérance à long terme d'une enzymothérapie s..:

Elstein, D. ; Giraldo, P. ; Mehta, A....
La Revue de Médecine Interne. 36 (2015) - p. A108 , 2015

Link: https://doi.org/10.1016/..

4

NovelB3GALTLmutations in classic Peters plus syndrome and l..:

Weh, E. ; Reis, L.M. ; Tyler, R.C....
Clinical Genetics. 86 (2013) 2 - p. 142-148 , 2013

Link: https://doi.org/10.1111/..

5

Population Pharmacokinetic Modeling and Dosing Simulations ..:

Monteleone, Jon P. R. ; Mokhtarani, M. ; Diaz, G. A....
The Journal of Clinical Pharmacology. 53 (2013) 7 - p. 699-710 , 2013

Link: https://doi.org/10.1002/..

6

Elevated phenylacetic acid levels do not correlate with adv..:

Mokhtarani, M. ; Diaz, G.A. ; Rhead, W....
Molecular Genetics and Metabolism. 110 (2013) 4 - p. 446-453 , 2013

Link: https://doi.org/10.1016/..

7

Urinary phenylacetylglutamine as dosing biomarker for patie..:

Mokhtarani, M. ; Diaz, G.A. ; Rhead, W....
Molecular Genetics and Metabolism. 107 (2012) 3 - p. 308-314 , 2012

Link: https://doi.org/10.1016/..

8

Ammonia control in children with urea cycle disorders (UCDs..:

Lichter-Konecki, Uta ; Diaz, G.A. ; Merritt II, J.L....
Molecular Genetics and Metabolism. 103 (2011) 4 - p. 323-329 , 2011

Link: https://doi.org/10.1016/..

9

Tetrahydrobiopterin deficiency in human rabies:

Willoughby, R. E. ; Opladen, T. ; Maier, T....
Journal of Inherited Metabolic Disease. 32 (2008) 1 - p. 65-72 , 2008

Link: https://doi.org/10.1007/..

10

Transient multiple acyl-CoA dehydrogenation deficiency in a..:

Chiong, M.A. ; Sim, K.G. ; Carpenter, K....
Molecular Genetics and Metabolism. 92 (2007) 1-2 - p. 109-114 , 2007

Link: https://doi.org/10.1016/..

11

Phenylketonuria in adulthood: A collaborative study:

Koch, R. ; Burton, B. ; Hoganson, G....
Journal of Inherited Metabolic Disease. 25 (2002) 5 - p. 333-346 , 2002

Link: https://doi.org/10.1023/..

12

RadioHPLC profiles of acyl-camitines improve detection of m..:

Rhead, W.J. ; Lambert, D.
Genetics in Medicine. 2 (2000) 1 - p. 73 , 2000

Link: https://doi.org/10.1097/..

13

Short-chain acyl–CoA dehydrogenase deficiency: A cause of o..:

Tein, I. ; Haslam, R.H. A. ; Rhead, W.J....
Neurology. 52 (1999) 2 - p. 366-366 , 1999

Link: https://doi.org/10.1212/..

14

Stridor as the major presenting symptom in riboflavin-respo..:

Sperl, W. ; Geiger, R. ; Lehnert, W..
European Journal of Pediatrics. 156 (1997) 10 - p. 800-802 , 1997

Link: https://doi.org/10.1007/..

15

Formation of a novel arachidonic acid metabolite in peroxis..:

Gordon, J.A. ; Heller, S.K. ; Rhead, W.J...
Prostaglandins, Leukotrienes and Essential Fatty Acids. 52 (1995) 2-3 - p. 77-81 , 1995

Link: https://doi.org/10.1016/..