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1.
Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria.
J Inherit Metab Dis
; 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38487984
2.
Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria.
Mol Genet Metab
; 2022 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35680516
3.
Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis.
Osteoarthritis Cartilage
; 27(8): 1244-1251, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31022456
4.
Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone.
Mol Genet Metab
; 125(1-2): 135-143, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30049652
5.
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.
Mol Genet Metab Rep
; 40: 101097, 2024 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-38846518
6.
Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria.
Mol Genet Metab Rep
; 30: 100846, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35242577
7.
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.
Sci Rep
; 12(1): 16083, 2022 09 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36167967
8.
Interference of hydroxyphenylpyruvic acid, hydroxyphenyllactic acid and tyrosine on routine serum and urine clinical chemistry assays; implications for biochemical monitoring of patients with alkaptonuria treated with nitisinone.
Clin Biochem
; 71: 24-30, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31228435
9.
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.
JIMD Rep
; 41: 109-117, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29754208
10.
A medical audit and patient survey of hysterectomies performed for menstrual disorders.
Scott Med J
; 41(2): 44-6, 1996 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-8735501
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