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Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders. [electronic resource] by
- Moat, Stuart
- Carling, Rachel
- Nix, Authur
- Henderson, Michael
- Briddon, Anthony
- Prunty, Helen
- Talbot, Roy
- Powell, Annette
- Wright, Katherine
- Fuchs, Sabine
- de Koning, Tom
Producer: 20110127
In:
Molecular genetics and metabolism vol. 101
Availability: No items available.
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Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice. [electronic resource] by
- Pai, Yun Jin
- Leung, Kit-Yi
- Savery, Dawn
- Hutchin, Tim
- Prunty, Helen
- Heales, Simon
- Brosnan, Margaret E
- Brosnan, John T
- Copp, Andrew J
- Greene, Nicholas D E
Producer: 20160208
In:
Nature communications vol. 6
Availability: No items available.
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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B [electronic resource] by
- Darin, Niklas
- Reid, Emma
- Prunetti, Laurence
- Samuelsson, Lena
- Husain, Ralf A
- Wilson, Matthew
- El Yacoubi, Basma
- Footitt, Emma
- Chong, W K
- Wilson, Louise C
- Prunty, Helen
- Pope, Simon
- Heales, Simon
- Lascelles, Karine
- Champion, Mike
- Wassmer, Evangeline
- Veggiotti, Pierangelo
- de Crécy-Lagard, Valérie
- Mills, Philippa B
- Clayton, Peter T
Producer: 20170523
In:
American journal of human genetics vol. 99
Availability: No items available.
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Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. [electronic resource] by
- Baruteau, Julien
- Perocheau, Dany P
- Hanley, Joanna
- Lorvellec, Maëlle
- Rocha-Ferreira, Eridan
- Karda, Rajvinder
- Ng, Joanne
- Suff, Natalie
- Diaz, Juan Antinao
- Rahim, Ahad A
- Hughes, Michael P
- Banushi, Blerida
- Prunty, Helen
- Hristova, Mariya
- Ridout, Deborah A
- Virasami, Alex
- Heales, Simon
- Howe, Stewen J
- Buckley, Suzanne M K
- Mills, Philippa B
- Gissen, Paul
- Waddington, Simon N
Producer: 20181217
In:
Nature communications vol. 9
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Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial. [electronic resource] by
- Chiesa, Robert
- Standing, Joseph F
- Winter, Robert
- Nademi, Zohreh
- Chu, Jan
- Pinner, Danielle
- Kloprogge, Frank
- McLellen, Susan
- Amrolia, Persis J
- Rao, Kanchan
- Lucchini, Giovanna
- Silva, Juliana
- Ciocarlie, Oana
- Lazareva, Arina
- Gennery, Andrew R
- Doncheva, Bilyana
- Cant, Andrew J
- Hambleton, Sophie
- Flood, Terence
- Rogerson, Elizabeth
- Devine, Kirsty
- Prunty, Helen
- Heales, Simon
- Veys, Paul
- Slatter, Mary
Producer: 20210524
In:
Clinical pharmacology and therapeutics vol. 108
Availability: No items available.
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