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Mills, Philippa
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1

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in ..:

Motamed-Gorji, Nazgol ; Khalil, Youssef ; Gonzalez-Robles, Cristina...
Antioxidants.  13 (2024)  5 - p. 561 , 2024
Link: https://doi.org/10.3390/..
 
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2

Mouse models for inherited monoamine neurotransmitter disor..:

Thöny, Beat ; Ng, Joanne ; Kurian, Manju A...
Journal of Inherited Metabolic Disease.  47 (2024)  3 - p. 533-550 , 2024
Link: https://doi.org/10.1002/..
 
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3

New Perspectives in Dried Blood Spot Biomarkers for Lysosom..:

Spiewak, Justyna ; Doykov, Ivan ; Papandreou, Apostolos...
International Journal of Molecular Sciences.  24 (2023)  12 - p. 10177 , 2023
Link: https://doi.org/10.3390/..
 
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4

Natural history of epilepsy in argininosuccinic aciduria pr..:

Elkhateeb, Nour ; Olivieri, Giorgia ; Siri, Barbara...
Epilepsia.  64 (2023)  6 - p. 1612-1626 , 2023
Link: https://doi.org/10.1111/..
 
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5

Liver transplantation in ornithine transcarbamylase deficie..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Chakrapani, Anupam...
Molecular Genetics and Metabolism Reports.  37 (2023)  - p. 101020 , 2023
Link: https://doi.org/10.1016/..
 
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6

First in man study of intravitreal tripeptidyl peptidase 1 ..:

Wawrzynski, James ; Martinez, Ana Rodriguez ; Thompson, Dorothy Ann...
Eye.  38 (2023)  6 - p. 1176-1182 , 2023
Link: https://doi.org/10.1038/..
 
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7

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd C ; Sokolová, Jitka...
Redox Biology.  58 (2022)  - p. 102517 , 2022
Link: https://doi.org/10.1016/..
 
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8

Characterization of Novel Pathogenic Variants Causing Pyrid..:

Barile, Anna ; Mills, Philippa ; di Salvo, Martino L....
International Journal of Molecular Sciences.  22 (2021)  21 - p. 12013 , 2021
Link: https://doi.org/10.3390/..
 
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9

Urine proteomics analysis of patients with neuronal ceroid ..:

Iwan, Katharina ; Clayton, Robert ; Mills, Philippa...
iScience.  24 (2021)  2 - p. 102020 , 2021
Link: https://doi.org/10.1016/..
 
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10

Consensus guidelines for the diagnosis and management of py..:

Coughlin II, Curtis R. ; Tseng, Laura A. ; Abdenur, Jose E....
Journal of Inherited Metabolic Disease.  44 (2020)  1 - p. 178-192 , 2020
Link: https://doi.org/10.1002/..
 
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11

Deep phenotyping proteomics analysis of CSF from CLN2 patie..:

Iwan, Katharina ; Doykov, Ivan D. ; Mills, Kevin...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S79-S80 , 2020
Link: https://doi.org/10.1016/..
 
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12

Improved specificity for detection of Niemann-Pick disease ..:

Doykov, Ivan D. ; Papandreou, Apostolos ; Spiewak, Justyna...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S51 , 2020
Link: https://doi.org/10.1016/..
 
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13

Free urinary glycosylated hydroxylysine as an indicator of ..:

Patel, Nina ; Mills, Philippa ; Davison, James...
Journal of Inherited Metabolic Disease.  43 (2019)  2 - p. 309-317 , 2019
Link: https://doi.org/10.1002/..
 
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14

Urea Cycle Related Amino Acids Measured in Dried Bloodspots..:

Baruteau, Julien ; Khalil, Youssef ; Grunewald, Stephanie...
Metabolites.  9 (2019)  11 - p. 275 , 2019
Link: https://doi.org/10.3390/..
 
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15

The effect of treatment on urinary glycosylated lysine a ma..:

Heywood, Wendy E. ; Patel, Nina ; Doykov, Ivan...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S63 , 2018
Link: https://doi.org/10.1016/..
 
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