Movement Disorders (revue)

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Sepiapterin Reductase Deficiency: Two Indian Siblings with Unusual Clinical Features

Identifieur interne : 000841 ( PascalFrancis/Checkpoint ); précédent : 000840; suivant : 000842

Sepiapterin Reductase Deficiency: Two Indian Siblings with Unusual Clinical Features

Auteurs : Gurusidheshwar M. Wali [Inde] ; Beat Thony [Suisse] ; Nenad Blau [Suisse]

Source :

RBID : Pascal:10-0288358

Descripteurs français

English descriptors


Affiliations:


Links toward previous steps (curation, corpus...)


Links to Exploration step

Pascal:10-0288358

Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en" level="a">Sepiapterin Reductase Deficiency: Two Indian Siblings with Unusual Clinical Features</title>
<author>
<name sortKey="Wali, Gurusidheshwar M" sort="Wali, Gurusidheshwar M" uniqKey="Wali G" first="Gurusidheshwar M." last="Wali">Gurusidheshwar M. Wali</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Neurospecialities Centre Belgaum, Karnataka State</s1>
<s3>IND</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Inde</country>
<wicri:noRegion>Neurospecialities Centre Belgaum, Karnataka State</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Thony, Beat" sort="Thony, Beat" uniqKey="Thony B" first="Beat" last="Thony">Beat Thony</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</s1>
<s2>Zurich</s2>
<s3>CHE</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</s1>
<s2>Zurich</s2>
<s3>CHE</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">INIST</idno>
<idno type="inist">10-0288358</idno>
<date when="2010">2010</date>
<idno type="stanalyst">PASCAL 10-0288358 INIST</idno>
<idno type="RBID">Pascal:10-0288358</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000B06</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002213</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000841</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en" level="a">Sepiapterin Reductase Deficiency: Two Indian Siblings with Unusual Clinical Features</title>
<author>
<name sortKey="Wali, Gurusidheshwar M" sort="Wali, Gurusidheshwar M" uniqKey="Wali G" first="Gurusidheshwar M." last="Wali">Gurusidheshwar M. Wali</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Neurospecialities Centre Belgaum, Karnataka State</s1>
<s3>IND</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Inde</country>
<wicri:noRegion>Neurospecialities Centre Belgaum, Karnataka State</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Thony, Beat" sort="Thony, Beat" uniqKey="Thony B" first="Beat" last="Thony">Beat Thony</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</s1>
<s2>Zurich</s2>
<s3>CHE</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</s1>
<s2>Zurich</s2>
<s3>CHE</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint>
<date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Deficiency</term>
<term>Indian</term>
<term>Nervous system diseases</term>
<term>Sepiapterin reductase</term>
<term>Sibling</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Déficit</term>
<term>Pathologie du système nerveux</term>
<term>Sepiapterin reductase</term>
<term>Indien</term>
<term>Fratrie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Déficit</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<inist>
<standard h6="B">
<pA>
<fA01 i1="01" i2="1">
<s0>0885-3185</s0>
</fA01>
<fA03 i2="1">
<s0>Mov. disord.</s0>
</fA03>
<fA05>
<s2>25</s2>
</fA05>
<fA06>
<s2>7</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG">
<s1>Sepiapterin Reductase Deficiency: Two Indian Siblings with Unusual Clinical Features</s1>
</fA08>
<fA11 i1="01" i2="1">
<s1>WALI (Gurusidheshwar M.)</s1>
</fA11>
<fA11 i1="02" i2="1">
<s1>THONY (Beat)</s1>
</fA11>
<fA11 i1="03" i2="1">
<s1>BLAU (Nenad)</s1>
</fA11>
<fA14 i1="01">
<s1>Neurospecialities Centre Belgaum, Karnataka State</s1>
<s3>IND</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="02">
<s1>Laboratory of Clinical Chemistry ana Biochemistry University Children's Hospital</s1>
<s2>Zurich</s2>
<s3>CHE</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA20>
<s1>954-955</s1>
</fA20>
<fA21>
<s1>2010</s1>
</fA21>
<fA23 i1="01">
<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>20953</s2>
<s5>354000193040220260</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>5 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>10-0288358</s0>
</fA47>
<fA60>
<s1>P</s1>
<s3>LT</s3>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>Movement disorders</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Déficit</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Deficiency</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Déficiencia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Pathologie du système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Sepiapterin reductase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Sepiapterin reductase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Sepiapterin reductase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Indien</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Indian</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Indio</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Fratrie</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Sibling</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Hermandad</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Oxidoreductases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Oxidoreductases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Oxidoreductases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fN21>
<s1>186</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations>
<list>
<country>
<li>Inde</li>
<li>Suisse</li>
</country>
</list>
<tree>
<country name="Inde">
<noRegion>
<name sortKey="Wali, Gurusidheshwar M" sort="Wali, Gurusidheshwar M" uniqKey="Wali G" first="Gurusidheshwar M." last="Wali">Gurusidheshwar M. Wali</name>
</noRegion>
</country>
<country name="Suisse">
<noRegion>
<name sortKey="Thony, Beat" sort="Thony, Beat" uniqKey="Thony B" first="Beat" last="Thony">Beat Thony</name>
</noRegion>
<name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000841 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Checkpoint/biblio.hfd -nk 000841 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Checkpoint
   |type=    RBID
   |clé=     Pascal:10-0288358
   |texte=   Sepiapterin Reductase Deficiency: Two Indian Siblings with Unusual Clinical Features
}}

Wicri

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024