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

Successful Pregnancy in a Patient with Severe 11-Beta-Hydroxylase Deficiency and Novel Mutations in CYP11B1 Gene

2007 ◽  
Vol 68 (6) ◽  
pp. 294-297 ◽  
Author(s):  
Peter J. Simm ◽  
Margaret R. Zacharin
Keyword(s):  
Novel Mutations ◽  
Hydroxylase Deficiency ◽  
Successful Pregnancy

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

Abstract #805: Male Infertility in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2005 ◽  
Vol 11 ◽  
pp. 4-5
Author(s):  
Shanjian Zhu ◽  
Harris C. Taylor ◽  
Baha Arafah ◽  
Thomas A. Murphy
Keyword(s):  
Male Infertility ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Case Report: Respiratory management of a successful pregnancy in type II spinal muscular atrophy

Pneumologie ◽  
2018 ◽  
Vol 72 (S 01) ◽  
pp. S99-S99
Author(s):  
D Ladage ◽  
M Valter ◽  
K Frank
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type Ii ◽  
Successful Pregnancy ◽  
Respiratory Management

Late diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2006 ◽  
Vol 114 (S 1) ◽  
Author(s):  
K Müssig ◽  
S Kaltenbach ◽  
C Maser-Gluth ◽  
MF Hartmann ◽  
SA Wudy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Late Diagnosis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Classic Congenital Adrenal Hyperplasia ◽  
21 Hydroxylase Deficiency

The usefulness of plasma 21-deoxycortisol (21-DF) prior to and after ACTH for the diagnosis, therapy, and detection of heterozygosity in families with 21-hydroxylase deficiency

1985 ◽  
Vol 110 (1_Suppla) ◽  
pp. S21 ◽  
Author(s):  
U. HEINRICH ◽  
A. MILEVICZ ◽  
A. FIES ◽  
T. ROMER ◽  
D. HAACK
Keyword(s):  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Diagnosis Therapy

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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