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Rhead, William J.
111  Ergebnisse:
Personensuche X
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1

Analysis of the baseline characteristics of Fabry disease p..:

Warnock, David ; Eric, Wallace ; Schiffmann, Raphael...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S150-S151 , 2019
Link: https://doi.org/10.1016/..
 
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2

Long-term safety and efficacy of glycerol phenylbutyrate fo..:

Diaz, George A. ; Schulze, Andreas ; Longo, Nicola...
Molecular Genetics and Metabolism.  127 (2019)  4 - p. 336-345 , 2019
Link: https://doi.org/10.1016/..
 
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3

Long-term velaglucerase alfa treatment in children with Gau..:

Smith, Laurie ; Rhead, William ; Charrow, Joel...
Molecular Genetics and Metabolism.  117 (2016)  2 - p. 164-171 , 2016
Link: https://doi.org/10.1016/..
 
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4

Clinical management of patients with ASXL1 mutations and Bo..:

Russell, Bianca ; Johnston, Jennifer J. ; Biesecker, Leslie G....
American Journal of Medical Genetics Part A.  167 (2015)  9 - p. 2122-2131 , 2015
Link: https://doi.org/10.1002/..
 
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5

Blood ammonia and glutamine as predictors of hyperammonemic..:

Lee, Brendan ; Diaz, George A. ; Rhead, William...
Genetics in Medicine.  17 (2015)  7 - p. 561-568 , 2015
Link: https://doi.org/10.1038/..
 
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6

Self-reported treatment-associated symptoms among patients ..:

Nagamani, Sandesh C.S. ; Diaz, George A. ; Rhead, William...
Molecular Genetics and Metabolism.  116 (2015)  1-2 - p. 29-34 , 2015
Link: https://doi.org/10.1016/..
 
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7

Treatment-related signs and symptoms among patients with ur..:

Nagamani, Sandesh C. ; Diaz, George A. ; Rhead, William J....
Clinical Biochemistry.  47 (2014)  15 - p. 153 , 2014
Link: https://doi.org/10.1016/..
 
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8

Mutation Update for UBE3A Variants in Angelman Syndrome:

Sadikovic, Bekim ; Fernandes, Priscilla ; Zhang, Victor Wei...
Human Mutation.  35 (2014)  12 - p. 1407-1417 , 2014
Link: https://doi.org/10.1002/..
 
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9

Safety and efficacy of long-term enzyme replacement therapy..:

Elstein, Deborah ; Giraldo, Pilar ; Mehta, Atul...
Molecular Genetics and Metabolism.  111 (2014)  2 - p. S41-S42 , 2014
Link: https://doi.org/10.1016/..
 
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10

Glycerol phenylbutyrate treatment in children with urea cyc..:

Berry, Susan A. ; Lichter-Konecki, Uta ; Diaz, George A....
Molecular Genetics and Metabolism.  112 (2014)  1 - p. 17-24 , 2014
Link: https://doi.org/10.1016/..
 
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11

Safety and efficacy of velaglucerase alfa in Gaucher diseas..:

Zimran, Ari ; Pastores, Gregory M. ; Tylki‐Szymanska, Anna...
American Journal of Hematology.  88 (2013)  3 - p. 172-178 , 2013
Link: https://doi.org/10.1002/..
 
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12

Changes in plasma and urine globotriaosylceramide levels do..:

Schiffmann, Raphael ; Ries, Markus ; Blankenship, Derek...
Genetics in Medicine.  15 (2013)  12 - p. 983-989 , 2013
Link: https://doi.org/10.1038/..
 
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13

Prevalence and mutation analysis of short/branched chain ac..:

Van Calcar, Sandra C. ; Baker, Mei W. ; Williams, Phillip...
Molecular Genetics and Metabolism.  110 (2013)  1-2 - p. 111-115 , 2013
Link: https://doi.org/10.1016/..
 
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14

Ammonia control and neurocognitive outcome among urea cycle..:

Diaz, George A. ; Krivitzky, Lauren S. ; Mokhtarani, Masoud...
Hepatology.  57 (2013)  6 - p. 2171-2179 , 2013
Link: https://doi.org/10.1002/..
 
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15

PCR-based target sequence enrichment and next generation se..:

Bai, Renkui ; Higgs, Jaimie ; Suchy, Sharon...
Mitochondrion.  12 (2012)  5 - p. 588-589 , 2012
Link: https://doi.org/10.1016/..
 
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