المؤلفون: Sparks, S. E., Wassif, C. A., Goodwin, H., Conley, S. K., Lanham, D. C., Kratz, L. E., Hyland, K., Gropman, A., Tierney, E., Porter, F. D.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. May 2014 37(3):415-420

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Boles, Richard G., Ment, Laura R., Meyn, M. Stephen, Horwich, Arthur L., Kratz, Lisa E., Rinaldo, Piero, Boles, R G, Ment, L R, Meyn, M S, Horwich, A L, Kratz, L E, Rinaldo, P

المصدر: Annals of Neurology; 1993, Vol. 34 Issue 5, p742-744, 3p

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Castagnoli, Jr., N., Kratz, L. E., Lijinsky, W., Rose, J. E., Singer, S. S.

المصدر: Xenobiotica; Nov1987, Vol. 17 Issue 11, p1279, 0p

مصطلحات موضوعية: METABOLISM

المؤلفون: Kumada S; Department of Pediatrics, Musashino Red Cross Hospital, Tokyo, Japan. kumada.wataru@mua.biglobe.ne.jp, Hayashi M, Kenmochi J, Kurosawa S, Shimozawa N, Kratz LE, Kelley RI, Taki K, Okaniwa M

المصدر: American journal of medical genetics [Am J Med Genet] 2001 Jan 22; Vol. 98 (3), pp. 250-5.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cholesterol/*biosynthesis , Chondrodysplasia Punctata, Rhizomelic/*pathology , Plasmalogens/*biosynthesis, Calcinosis/pathology ; Child, Preschool ; Chondrodysplasia Punctata, Rhizomelic/metabolism ; Fatal Outcome ; Humans ; Infant ; Male

المؤلفون: Nowaczyk MJ; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada. nowaczyk@hhsc.ca, Heshka T, Kratz LE, Kelley RE

المصدر: American journal of medical genetics [Am J Med Genet] 2000 Dec 11; Vol. 95 (4), pp. 396-8.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Prenatal Diagnosis*, Smith-Lemli-Opitz Syndrome/*diagnosis , Smith-Lemli-Opitz Syndrome/*genetics, Adult ; Amniotic Fluid/chemistry ; Chorionic Villi Sampling ; Dehydrocholesterols/analysis ; Diagnosis, Differential ; Female ; Humans ; Nuclear Family ; Pregnancy ; Smith-Lemli-Opitz Syndrome/enzymology

المؤلفون: Grange DK; Department of Pediatrics, Saint Louis University School of Medicine, Missouri, USA. grange@slu.edu, Kratz LE, Braverman NE, Kelley RI

المصدر: American journal of medical genetics [Am J Med Genet] 2000 Feb 14; Vol. 90 (4), pp. 328-35.

نوع المنشور: Case Reports; Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*enzymology, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Female ; Humans ; Ichthyosis, X-Linked/enzymology ; Ichthyosis, X-Linked/genetics ; Infant ; Leg/abnormalities ; Point Mutation ; Radiography ; Sterols/blood ; Syndrome

المؤلفون: Shackleton CH; Children's Hospital Oakland Research Institute, CA 94609, USA. cshackleton@mail.cho.org, Roitman E, Kratz LE, Kelley RI

المصدر: Steroids [Steroids] 1999 Jul; Vol. 64 (7), pp. 446-52.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0404536 Publication Model: Print Cited Medium: Print ISSN: 0039-128X (Print) Linking ISSN: 0039128X NLM ISO Abbreviation: Steroids Subsets: MEDLINE

مواضيع طبية MeSH: Oxidoreductases Acting on CH-CH Group Donors* , Prenatal Diagnosis*, Biomarkers/*urine , Pregnenes/*urine , Smith-Lemli-Opitz Syndrome/*urine, Adult ; Chromatography, Ion Exchange ; Female ; Gas Chromatography-Mass Spectrometry ; Humans ; Oxidoreductases/deficiency ; Pregnancy ; Pregnancy Trimester, Second ; Smith-Lemli-Opitz Syndrome/diagnosis