scholarly journals An inborn error of bile acid synthesis (3 -hydroxy- 5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets

1999 ◽  
Vol 80 (5) ◽  
pp. 463-465 ◽  
Author(s):  
A. K Akobeng ◽  
P. T Clayton ◽  
V. Miller ◽  
M. Super ◽  
A. G Thomas
Keyword(s):  
Bile Acid ◽  
Inborn Error ◽  
Dehydrogenase Deficiency ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Steroid Dehydrogenase

ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia

2017 ◽  
Vol 66 (3) ◽  
pp. 581-588 ◽  
Author(s):  
Maria J. Monte ◽  
Marta Alonso-Peña ◽  
Oscar Briz ◽  
Elisa Herraez ◽  
Carmen Berasain ◽  
...  
Keyword(s):  
Bile Acid ◽  
Inborn Error ◽  
Acid Synthesis ◽  
Bile Acid Synthesis

scholarly journals Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report

2021 ◽  
Vol 9 (26) ◽  
pp. 7923-7929
Author(s):  
Shou-Hao Wang ◽  
Tian-Chen Hui ◽  
Zhe-Wen Zhou ◽  
Cheng-An Xu ◽  
Wen-Hao Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Bile Acid ◽  
Inborn Error ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Diagnosis And Treatment
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