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474 results on '"Nazer, Hisham"'

451. Childhood Polyarteritis Nodosa

Author

Ozaltin, Fatih, Ozen, Seza, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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452. Henoch–Schöenlein Purpura

Author

Ruperto, Nicolino, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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455. Miscellaneous Allergies

Author

Harfi, Harb A., Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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456. Insect Allergy

Author

Harfi, Harb A., Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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457. Drug Allergy

Author

Harfi, Harb A., Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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458. Tetanus

Author

Alola, Sulaiman Al, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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459. Shigellosis

Author

Al-shaalan, Mohammad, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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460. Infant Botulism

Author

Al-Shaalan, Mohammad, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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461. Animal and Human Bites

Author

Whitley, Richard J., Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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462. Poliomyelitis

Author

Al-Shaalan, Mohammad, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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463. Mumps

Author

Whitley, Richard J., Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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464. Nocardiosis

Author

AlMaghrabi, Rana, Bin-Hussain, Ibrahim, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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467. Introduction to Endocrine Disorders

Author

Hussain, Khalid, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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468. Germ Cell Tumors

Author

Malempati, Suman, Nicholson, H. Stacy, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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470. Hepatic Tumors

Author

Nicholson, H. Stacy, Malempati, Suman, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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471. Principles of Diagnosis

Author

Blaschke, Gregory, Nicholson, H. Stacy, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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472. Takayasu Arteritis

Author

Ozaltin, Fatih, Ozen, Seza, Elzouki, Abdelaziz Y., editor, Harfi, Harb A., editor, Nazer, Hisham M., editor, Stapleton, F. Bruder, editor, Oh, William, editor, and Whitley, Richard J., editor

Published
2012
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473. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.

Author

Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, and Russell DW

Subjects
Adolescent, Child, Child, Preschool, Cholestasis enzymology, Cholestasis genetics, Chromosomes, Human, Pair 16, Digestive System metabolism, Exons, Female, Gene Deletion, Humans, Infant, Infant, Newborn, Lipid Metabolism, Malabsorption Syndromes enzymology, Malabsorption Syndromes genetics, Male, Mutation, Pedigree, RNA, Messenger analysis, Vitamins metabolism, 3-Hydroxysteroid Dehydrogenases deficiency, 3-Hydroxysteroid Dehydrogenases genetics, Bile Acids and Salts biosynthesis, Liver Diseases enzymology
Abstract

The 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase (C(27) 3beta-HSD) is a membrane-bound enzyme of the endoplasmic reticulum that catalyzes an early step in the synthesis of bile acids from cholesterol. Subjects with autosomal recessive mutations in the encoding gene, HSD3B7, on chromosome 16p11.2-12 fail to synthesize bile acids and develop a form of progressive liver disease characterized by cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract. The gene encoding the human C(27) 3beta-HSD enzyme was isolated previously, and a 2-bp deletion in exon 6 of HSD3B7 was identified in a well characterized subject with this disorder. Here, we report a molecular analysis of 15 additional patients from 13 kindreds with C(27) 3beta-HSD deficiency. Twelve different mutations were identified in the HSD3B7 gene on chromosome 16p11.2-12. Ten mutations were studied in detail and shown to cause complete loss of enzyme activity and, in two cases, alterations in the size or amount of the transcribed mRNA. Mutations were inherited in homozygous form in 13 subjects from 10 families and compound heterozygous form in four subjects from three families. We conclude that a diverse spectrum of mutations in the HSD3B7 gene underlies this rare form of neonatal cholestasis.

Published
2003
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474. Regression of diaphyseal multiloculated bone cyst in familial steroid dehydrogenase deficiency.

Author

Khorsheed SS, Nazer H, and Hugosson C

Subjects
3-Hydroxysteroid Dehydrogenases genetics, Bilirubin blood, Bone Cysts enzymology, Chenodeoxycholic Acid therapeutic use, Cholestasis drug therapy, Cholestasis etiology, Hepatomegaly, Humans, Infant, Liver Diseases drug therapy, Liver Diseases etiology, Male, Splenomegaly, 3-Hydroxysteroid Dehydrogenases deficiency, Bone Cysts drug therapy, Bone Cysts genetics
Published
2003
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