Steroid dehydrogenase deficiency-dental anomalies syndrome

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid.

Archives of Disease in Childhood ◽

10.1136/adc.65.10.1121 ◽

1990 ◽

Vol 65 (10) ◽

pp. 1121-1124 ◽

Cited By ~ 47

Author(s):

H Ichimiya ◽

H Nazer ◽

T Gunasekaran ◽

P Clayton ◽

J Sjovall

Keyword(s):

Liver Disease ◽

Chronic Liver Disease ◽

Chenodeoxycholic Acid ◽

Dehydrogenase Deficiency ◽

Chronic Liver ◽

Steroid Dehydrogenase

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Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)42035-8 ◽

1991 ◽

Vol 32 (5) ◽

pp. 829-841

Author(s):

H Ichimiya ◽

B Egestad ◽

H Nazer ◽

ES Baginski ◽

PT Clayton ◽

...

Keyword(s):

Bile Acids ◽

Chenodeoxycholic Acid ◽

Acid Treatment ◽

Dehydrogenase Deficiency ◽

Steroid Dehydrogenase

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Regression of Diaphyseal Multiloculated Bone Cyst in Familial Steroid Dehydrogenase Deficiency

Journal of Pediatric Gastroenterology and Nutrition ◽

10.1097/00005176-200304000-00011 ◽

2003 ◽

Vol 36 (4) ◽

pp. 479-481

Author(s):

Sahar S. Khorsheed ◽

Hisham Nazer ◽

Claes Hugosson

Keyword(s):

Dehydrogenase Deficiency ◽

Bone Cyst ◽

Steroid Dehydrogenase

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

Archives of Disease in Childhood ◽

10.1136/adc.80.5.463 ◽

1999 ◽

Vol 80 (5) ◽

pp. 463-465 ◽

Cited By ~ 21

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

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3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology

Journal of Inherited Metabolic Disease ◽

10.1007/bf01800342 ◽

1992 ◽

Vol 15 (1) ◽

pp. 38-46 ◽

Cited By ~ 25

Author(s):

S. P. Horslen ◽

A. M. Lawson ◽

M. Malone ◽

P. T. Clayton

Keyword(s):

Chenodeoxycholic Acid ◽

Dehydrogenase Deficiency ◽

Liver Histology ◽

Acid Therapy ◽

Steroid Dehydrogenase

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904 3ß-HYDROXY-C27-STEROID DEHYDROGENASE DEFICIENCY IN TWO CHINESE INFANTS AND SUCCESSFUL MANAGEMENT WITH HIGH-DOSE UDCA

Journal of Hepatology ◽

10.1016/s0168-8278(11)60906-9 ◽

2011 ◽

Vol 54 ◽

pp. S359-S360

Author(s):

J.-S. Wang' ◽

L.J. Fang

Keyword(s):

Dehydrogenase Deficiency ◽

High Dose ◽

Successful Management ◽

Steroid Dehydrogenase

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Ovarian steroidogenic responses to gonadotropin-releasing hormone agonist testing with nafarelin in hirsute women with adrenal responses to adrenocorticotropin suggestive of 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency.

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.76.2.8381802 ◽

1993 ◽

Vol 76 (2) ◽

pp. 450-455

Author(s):

R B Barnes ◽

D A Ehrmann ◽

D F Brigell ◽

R L Rosenfield

Keyword(s):

Dehydrogenase Deficiency ◽

Gonadotropin Releasing Hormone ◽

Releasing Hormone ◽

Gonadotropin Releasing Hormone Agonist ◽

Steroid Dehydrogenase

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Variable Clinical Spectrum of the Most Common Inborn Error of Bile Acid Metabolism—3β-hydroxy-Δ5-C27-steroid Dehydrogenase Deficiency

Journal of Pediatric Gastroenterology and Nutrition ◽

10.1097/mpg.0b013e3181b47b34 ◽

2010 ◽

Vol 50 (1) ◽

pp. 61-66 ◽

Cited By ~ 39

Author(s):

Pushpa Subramaniam ◽

Peter T Clayton ◽

Bernard C Portmann ◽

Giorgina Mieli-Vergani ◽

Nedim Hadžić

Keyword(s):

Bile Acid ◽

Inborn Error ◽

Acid Metabolism ◽

Dehydrogenase Deficiency ◽

Clinical Spectrum ◽

Bile Acid Metabolism ◽

Steroid Dehydrogenase

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3beta-Hydroxy-Delta5 -C27-steroid dehydrogenase deficiency: Diagnosis and treatment

Journal of Paediatrics and Child Health ◽

10.1046/j.1440-1754.2001.00751.x ◽

2001 ◽

Vol 37 (5) ◽

pp. 516-519 ◽

Cited By ~ 11

Author(s):

Y Yamato ◽

A Kimura ◽

T Murai ◽

T Yoshimura ◽

T Kurosawa ◽

...

Keyword(s):

Dehydrogenase Deficiency ◽

Diagnosis And Treatment ◽

Steroid Dehydrogenase

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Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association

Clinical Genetics ◽

10.1111/j.1399-0004.1996.tb03782.x ◽

2008 ◽

Vol 49 (5) ◽

pp. 249-254 ◽

Cited By ~ 2

Author(s):

S. P. Lyngstadaas ◽

C-J. Crossner ◽

H. Nazer ◽

P. S. Thrane ◽

H. Nordbø

Keyword(s):

Dehydrogenase Deficiency ◽

New Association ◽

Steroid Dehydrogenase

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