scholarly journals The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

2016 ◽  
pp. 49-53 ◽  
Author(s):  
Karolina M. Stepien ◽  
Anthony S. Wierzbicki ◽  
Bwee T. Poll-The ◽  
Hans R. Waterham ◽  
Christian J. Hendriksz
Keyword(s):  
Hydroxylase Deficiency ◽  
Successful Pregnancy ◽  
Refsum's Disease

Phytanoyl–Coenzyme a Hydroxylase Deficiency — The Enzyme Defect in Refsum's Disease

1997 ◽  
Vol 337 (2) ◽  
pp. 133-134 ◽  
Author(s):  
Gerbert A. Jansen ◽  
Ronald J.A. Wanders ◽  
Paul A. Watkins ◽  
Stephanie J. Mihalik
Keyword(s):  
Coenzyme A ◽  
Hydroxylase Deficiency ◽  
Enzyme Defect ◽  
Refsum's Disease

Disorders of Steroid 17α-Hydroxylase Deficiency

1994 ◽  
Vol 23 (2) ◽  
pp. 341-357 ◽  
Author(s):  
Claudio E. Kater ◽  
Edward G. Biglieri
Keyword(s):  
Hydroxylase Deficiency

Adrenal morphology in a large cohort of adult subjects with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2019 ◽  
Author(s):  
Claudia Oriolo ◽  
Daniela Ibarra Gasparini ◽  
Paola Altieri ◽  
Francesca Ruffilli ◽  
Francesca Corzani ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Large Cohort ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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