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Rumsby, Gill
66  Ergebnisse:
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1

Clinical practice recommendations for primary hyperoxaluria..:

Groothoff, Jaap W. ; Metry, Ella ; Deesker, Lisa...
Nature Reviews Nephrology.  19 (2023)  3 - p. 194-211 , 2023
Link: https://doi.org/10.1038/..
 
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2

Genetic assessment in primary hyperoxaluria: why it matters:

Mandrile, Giorgia ; Beck, Bodo ; Acquaviva, Cecile...
Pediatric Nephrology.  38 (2022)  3 - p. 625-634 , 2022
Link: https://doi.org/10.1007/..
 
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3

Inherited Metabolic Disease and the Kidney:

, In: Primer on Nephrology,
Gupta, Asheeta ; Rumsby, Gill ; Hulton, Sally-Anne - p. 1101-1119 , 2022
Link: https://doi.org/10.1007/..
 
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4

Plasma oxalate: comparison of methodologies:

Stokes, Felicity ; Acquaviva-Bourdain, Cecile ; Hoppe, Bernd...
Urolithiasis.  48 (2020)  6 - p. 473-480 , 2020
Link: https://doi.org/10.1007/..
 
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5

Disorders of Steroidogenesis: Guide to Steroid Profiling an..:

Rumsby, Gill ; Woodward, Gary M - 1st ed. 2019 . , 2019
Link: https://doi.org/10.1007/..
 
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6

Next-Generation Sequencing Reveals Novel Genetic Variants (..:

Buonocore, Federica ; Clifford-Mobley, Oliver ; King, Tom F J...
Journal of the Endocrine Society.  3 (2019)  12 - p. 2341-2360 , 2019
Link: https://doi.org/10.1210/..
 
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7

Patients with primary hyperoxaluria type 2 have significant..:

Garrelfs, Sander F. ; Rumsby, Gill ; Peters-Sengers, Hessel...
Kidney International.  96 (2019)  6 - p. 1389-1399 , 2019
Link: https://doi.org/10.1016/..
 
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8

Steroid Sulphotransferase and Sulphatase Deficiency:

, In: Disorders of Steroidogenesis,
Rumsby, Gill - p. 129-135 , 2018
Link: https://doi.org/10.1007/..
 
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9

11β-Hydroxylase Deficiency:

, In: Disorders of Steroidogenesis,
Rumsby, Gill - p. 55-63 , 2018
Link: https://doi.org/10.1007/..
 
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10

Overview of Adrenal Physiology and Steroid Biochemistry:

, In: Disorders of Steroidogenesis,
Woodward, Gary M. ; Rumsby, Gill - p. 1-15 , 2018
Link: https://doi.org/10.1007/..
 
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11

Steroid 5α-Reductase Deficiency:

, In: Disorders of Steroidogenesis,
Rumsby, Gill - p. 111-119 , 2018
Link: https://doi.org/10.1007/..
 
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12

3β-Hydroxysteroid Dehydrogenase/Isomerase Deficiency:

, In: Disorders of Steroidogenesis,
Rumsby, Gill - p. 65-73 , 2018
Link: https://doi.org/10.1007/..
 
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13

Adrenal Insufficiency:

, In: Disorders of Steroidogenesis,
Rumsby, Gill - p. 167-175 , 2018
Link: https://doi.org/10.1007/..
 
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14

Steroid-Producing Tumours:

, In: Disorders of Steroidogenesis,
Rumsby, Gill - p. 147-157 , 2018
Link: https://doi.org/10.1007/..
 
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15

17α-Hydroxylase Deficiency:

, In: Disorders of Steroidogenesis,
Rumsby, Gill - p. 75-84 , 2018
Link: https://doi.org/10.1007/..
 
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