A father and son with cholestasis and peripheral pulmonic stenosis
Identifieur interne : 005996 ( Istex/Corpus ); précédent : 005995; suivant : 005997A father and son with cholestasis and peripheral pulmonic stenosis
Auteurs : Caroline A. Riely ; Douglas R. Labrecque ; Cameron Ghent ; Arthur Horwich ; Gerald KlatskinSource :
- The Journal of Pediatrics [ 0022-3476 ] ; 1978.
Abstract
We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.
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DOI: 10.1016/S0022-3476(78)80428-4
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ISTEX:BF5FDF593FEC4ACD25590B68F2BC7076609080A2Le document en format XML
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Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</mods:affiliation></affiliation><affiliation><mods:affiliation>*Teaching and Research Scholar of the American College of Physicians.</mods:affiliation></affiliation></author><author><name sortKey="Labrecque, Douglas R" sort="Labrecque, Douglas R" uniqKey="Labrecque D" first="Douglas R." last="Labrecque">Douglas R. Labrecque</name><affiliation><mods:affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation></author><author><name sortKey="Ghent, Cameron" sort="Ghent, Cameron" uniqKey="Ghent C" first="Cameron" last="Ghent">Cameron Ghent</name><affiliation><mods:affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>**Supported by The R. Samuel McLaughlin Foundation.</mods:affiliation></affiliation></author><author><name sortKey="Horwich, Arthur" sort="Horwich, Arthur" uniqKey="Horwich A" first="Arthur" last="Horwich">Arthur Horwich</name><affiliation><mods:affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. 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USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Reprint address: Caroline A. Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</mods:affiliation></affiliation><affiliation><mods:affiliation>*Teaching and Research Scholar of the American College of Physicians.</mods:affiliation></affiliation></author><author><name sortKey="Labrecque, Douglas R" sort="Labrecque, Douglas R" uniqKey="Labrecque D" first="Douglas R." last="Labrecque">Douglas R. Labrecque</name><affiliation><mods:affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation></author><author><name sortKey="Ghent, Cameron" sort="Ghent, Cameron" uniqKey="Ghent C" first="Cameron" last="Ghent">Cameron Ghent</name><affiliation><mods:affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>**Supported by The R. Samuel McLaughlin Foundation.</mods:affiliation></affiliation></author><author><name sortKey="Horwich, Arthur" sort="Horwich, Arthur" uniqKey="Horwich A" first="Arthur" last="Horwich">Arthur Horwich</name><affiliation><mods:affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation></author><author><name sortKey="Klatskin, Gerald" sort="Klatskin, Gerald" uniqKey="Klatskin G" first="Gerald" last="Klatskin">Gerald Klatskin</name><affiliation><mods:affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">The Journal of Pediatrics</title><title level="j" type="abbrev">YMPD</title><idno type="ISSN">0022-3476</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1978">1978</date><biblScope unit="volume">92</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="406">406</biblScope><biblScope unit="page" to="411">411</biblScope></imprint><idno type="ISSN">0022-3476</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-3476</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>cholestasis</json:string><json:string>intrahepatic</json:string><json:string>stenosis</json:string><json:string>biliary</json:string><json:string>intrahepatic cholestasis</json:string><json:string>jaundice</json:string><json:string>pulmonic</json:string><json:string>pediatrics</json:string><json:string>atresia</json:string><json:string>duct</json:string><json:string>bile</json:string><json:string>bilirubin</json:string><json:string>extrahepatic</json:string><json:string>intrahepatic bile ducts</json:string><json:string>syndrome</json:string><json:string>peripheral pulmonic stenosis</json:string><json:string>progressive intrahepatic cholestasis</json:string><json:string>cirrhosis</json:string><json:string>byler disease</json:string><json:string>pulmonic stenosis</json:string><json:string>neonatal hepatitis</json:string><json:string>percutaneous liver biopsy</json:string><json:string>frontal bossing</json:string><json:string>bile ducts</json:string><json:string>anomaly</json:string><json:string>neonatal</json:string><json:string>familial intrahepatic cholestasis</json:string><json:string>previous reports</json:string><json:string>cholic acid</json:string><json:string>systolic murmur</json:string><json:string>extrahepatic biliary atresia</json:string><json:string>inborn error</json:string><json:string>physical examination</json:string><json:string>biopsy</json:string><json:string>vertical transmission</json:string><json:string>arteriohepatic dysplasia</json:string><json:string>primary hypothyroidism</json:string><json:string>acta paediatr scand</json:string><json:string>thyroid function tests</json:string><json:string>liver function tests</json:string><json:string>pediatrics march</json:string><json:string>liver study unit</json:string><json:string>portal areas</json:string><json:string>internal medicine</json:string><json:string>stool collection</json:string><json:string>cardiac catheterization</json:string><json:string>pulmonary valvular stenosis</json:string><json:string>ventricular septal defect</json:string><json:string>bile acid studies</json:string><json:string>duodenal drainage</json:string><json:string>bile acids</json:string><json:string>progressive forms</json:string><json:string>liver biopsy</json:string><json:string>sexual development</json:string><json:string>yale university school</json:string><json:string>alkaline phosphatase</json:string><json:string>research centers</json:string><json:string>intrahepatic bile duct anomalies</json:string><json:string>growth retardation</json:string><json:string>bile acid metabolism</json:string><json:string>bile salts</json:string><json:string>liver disease</json:string><json:string>obstructive jaundice</json:string><json:string>abnormal liver function tests</json:string></teeft></keywords><author><json:item><name>Caroline A. Riely M.D.</name><affiliations><json:string>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</json:string><json:string>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</json:string><json:string>Reprint address: Caroline A. Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</json:string><json:string>*Teaching and Research Scholar of the American College of Physicians.</json:string></affiliations></json:item><json:item><name>Douglas R. LaBrecque M.D.</name><affiliations><json:string>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</json:string><json:string>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</json:string></affiliations></json:item><json:item><name>Cameron Ghent M.D.</name><affiliations><json:string>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</json:string><json:string>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</json:string><json:string>**Supported by The R. Samuel McLaughlin Foundation.</json:string></affiliations></json:item><json:item><name>Arthur Horwich M.D.</name><affiliations><json:string>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</json:string><json:string>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</json:string></affiliations></json:item><json:item><name>Gerald Klatskin M.D.</name><affiliations><json:string>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. 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Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.</abstract><qualityIndicators><score>4.472</score><pdfVersion>1.3</pdfVersion><pdfPageSize>561.28 x 777.28 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>578</abstractCharCount><pdfWordCount>3428</pdfWordCount><pdfCharCount>21881</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>87</abstractWordCount></qualityIndicators><title>A father and son with cholestasis and peripheral pulmonic stenosis</title><pii><json:string>S0022-3476(78)80428-4</json:string></pii><genre><json:string>research-article</json:string></genre><host><title>The Journal of Pediatrics</title><language><json:string>unknown</json:string></language><publicationDate>1978</publicationDate><issn><json:string>0022-3476</json:string></issn><pii><json:string>S0022-3476(78)X8417-4</json:string></pii><volume>92</volume><issue>3</issue><pages><first>406</first><last>411</last></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>pediatrics</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>pediatrics</json:string></scienceMetrix><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string></inist></categories><publicationDate>1978</publicationDate><copyrightDate>1978</copyrightDate><doi><json:string>10.1016/S0022-3476(78)80428-4</json:string></doi><id>BF5FDF593FEC4ACD25590B68F2BC7076609080A2</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/BF5FDF593FEC4ACD25590B68F2BC7076609080A2/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/BF5FDF593FEC4ACD25590B68F2BC7076609080A2/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/BF5FDF593FEC4ACD25590B68F2BC7076609080A2/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">A father and son with cholestasis and peripheral pulmonic stenosis</title><title level="a" type="sub" xml:lang="en">A distinct form of intrahepatic cholestasis</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>©1978 The C. V. Mosby Company</p></availability><date>1978</date></publicationStmt><notesStmt><note>Clinical studies were performed in the Yale Children's and Adult Clinical Research Centers, supported by Grant RR-125, GCRC Branch, Division of Research Resources, National Institutes of Health, Bethesda, MD.</note><note>Supported in part by United States Public Health Service Grant AM 05180-17.</note><note type="content">Section title: Original article</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">A father and son with cholestasis and peripheral pulmonic stenosis</title><title level="a" type="sub" xml:lang="en">A distinct form of intrahepatic cholestasis</title><author xml:id="author-0000"><persName><forename type="first">Caroline A.</forename><surname>Riely</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Reprint address: Caroline A. Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</affiliation><affiliation>*Teaching and Research Scholar of the American College of Physicians.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Douglas R.</forename><surname>LaBrecque</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Cameron</forename><surname>Ghent</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>**Supported by The R. Samuel McLaughlin Foundation.</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Arthur</forename><surname>Horwich</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. 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These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.</p></abstract></profileDesc><revisionDesc><change when="1978">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/BF5FDF593FEC4ACD25590B68F2BC7076609080A2/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier doc found" wicri:toSee="Elsevier, no converted or simple article"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 5.0.1//EN//XML" URI="art501.dtd" name="istex:docType"></istex:docType><istex:document><article version="5.0" xml:lang="en" docsubtype="fla"><item-info><jid>YMPD</jid><aid>78804284</aid><ce:pii>S0022-3476(78)80428-4</ce:pii><ce:doi>10.1016/S0022-3476(78)80428-4</ce:doi><ce:copyright type="unknown" year="1978">The C. V. Mosby Company</ce:copyright></item-info><head><ce:article-footnote><ce:label>†</ce:label><ce:note-para>Clinical studies were performed in the Yale Children's and Adult Clinical Research Centers, supported by Grant RR-125, GCRC Branch, Division of Research Resources, National Institutes of Health, Bethesda, MD.</ce:note-para><ce:note-para>Supported in part by United States Public Health Service Grant AM 05180-17.</ce:note-para></ce:article-footnote><ce:dochead><ce:textfn>Original article</ce:textfn></ce:dochead><ce:title>A father and son with cholestasis and peripheral pulmonic stenosis</ce:title><ce:subtitle>A distinct form of intrahepatic cholestasis</ce:subtitle><ce:author-group><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Caroline A.</ce:given-name><ce:surname>Riely</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="fn1"><ce:sup>*</ce:sup></ce:cross-ref><ce:cross-ref refid="cor1"><ce:sup>***</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Douglas R.</ce:given-name><ce:surname>LaBrecque</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Cameron</ce:given-name><ce:surname>Ghent</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="fn2"><ce:sup>**</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Arthur</ce:given-name><ce:surname>Horwich</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Gerald</ce:given-name><ce:surname>Klatskin</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="aff1"><ce:label>a</ce:label><ce:textfn>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</ce:textfn></ce:affiliation><ce:affiliation id="aff2"><ce:label>b</ce:label><ce:textfn>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</ce:textfn></ce:affiliation><ce:correspondence id="cor1"><ce:label>***</ce:label><ce:text>Reprint address: Caroline A. Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</ce:text></ce:correspondence><ce:footnote id="fn1"><ce:label>*</ce:label><ce:note-para>Teaching and Research Scholar of the American College of Physicians.</ce:note-para></ce:footnote><ce:footnote id="fn2"><ce:label>**</ce:label><ce:note-para>Supported by The R. Samuel McLaughlin Foundation.</ce:note-para></ce:footnote></ce:author-group><ce:abstract id="ab1" class="author" xml:lang="en"><ce:abstract-sec><ce:simple-para>We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.</ce:simple-para></ce:abstract-sec></ce:abstract></head><tail><ce:bibliography><ce:section-title>References</ce:section-title><ce:bibliography-sec><ce:bib-reference id="bib1"><ce:label>1.</ce:label><sb:reference><sb:contribution langtype="en"><sb:authors><sb:author><ce:surname>Heathcote</ce:surname><ce:given-name>J</ce:given-name></sb:author><sb:author><ce:surname>Deodhar</ce:surname><ce:given-name>KP</ce:given-name></sb:author><sb:author><ce:surname>Scheuer</ce:surname><ce:given-name>PJ</ce:given-name></sb:author><sb:author><ce:surname>Sherlock</ce:surname><ce:given-name>S</ce:given-name></sb:author></sb:authors><sb:title><sb:maintitle>Intrahepatic cholestasis in childhood</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>N Engl J 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cholestasis</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Gastroenterology</sb:maintitle></sb:title><sb:volume-nr>71</sb:volume-nr></sb:series><sb:date>1976</sb:date></sb:issue><sb:pages><sb:first-page>926</sb:first-page></sb:pages></sb:host></sb:reference></ce:bib-reference></ce:bibliography-sec></ce:bibliography></tail></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>A father and son with cholestasis and peripheral pulmonic stenosis</title><subTitle>A distinct form of intrahepatic cholestasis</subTitle></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>A father and son with cholestasis and peripheral pulmonic stenosis</title><subTitle>A distinct form of intrahepatic cholestasis</subTitle></titleInfo><name type="personal"><namePart type="given">Caroline A.</namePart><namePart type="family">Riely</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Reprint address: Caroline A. Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</affiliation><affiliation>*Teaching and Research Scholar of the American College of Physicians.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Douglas R.</namePart><namePart type="family">LaBrecque</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cameron</namePart><namePart type="family">Ghent</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>**Supported by The R. Samuel McLaughlin Foundation.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Arthur</namePart><namePart type="family">Horwich</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gerald</namePart><namePart type="family">Klatskin</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation><affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1978</dateIssued><copyrightDate encoding="w3cdtf">1978</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.</abstract><note>Clinical studies were performed in the Yale Children's and Adult Clinical Research Centers, supported by Grant RR-125, GCRC Branch, Division of Research Resources, National Institutes of Health, Bethesda, MD.</note><note>Supported in part by United States Public Health Service Grant AM 05180-17.</note><note type="content">Section title: Original article</note><relatedItem type="host"><titleInfo><title>The Journal of Pediatrics</title></titleInfo><titleInfo type="abbreviated"><title>YMPD</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">197803</dateIssued></originInfo><identifier type="ISSN">0022-3476</identifier><identifier type="PII">S0022-3476(78)X8417-4</identifier><part><date>197803</date><detail type="volume"><number>92</number><caption>vol.</caption></detail><detail type="issue"><number>3</number><caption>no.</caption></detail><extent unit="issue pages"><start>1A</start><end>48A</end></extent><extent unit="issue pages"><start>347</start><end>522</end></extent><extent unit="issue pages"><start>49A</start><end>114A</end></extent><extent unit="pages"><start>406</start><end>411</end></extent></part></relatedItem><identifier type="istex">BF5FDF593FEC4ACD25590B68F2BC7076609080A2</identifier><identifier type="DOI">10.1016/S0022-3476(78)80428-4</identifier><identifier type="PII">S0022-3476(78)80428-4</identifier><identifier type="ArticleID">78804284</identifier><accessCondition type="use and reproduction" contentType="copyright">©1978 The C. V. Mosby Company</accessCondition><recordInfo><recordContentSource>ELSEVIER</recordContentSource><recordOrigin>The C. V. Mosby Company, ©1978</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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