共 24 条
- [21] SPHINGOSINE-1-PHOSPHATE LYASE INSUFFICIENCY SYNDROME DETECTED BY LOW T-CELL RECEPTOR EXCISION CIRCLES TREATED WITH VITAMIN B6ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2024, 133 (06) : S165 - S165Makkoukji, N.论文数: 0 引用数: 0 h-index: 0DeFreitas, M.论文数: 0 引用数: 0 h-index: 0Kleiner, G.论文数: 0 引用数: 0 h-index: 0Saba, J.论文数: 0 引用数: 0 h-index: 0Gans, M.论文数: 0 引用数: 0 h-index: 0
- [22] Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal InsufficiencyGENES, 2022, 13 (05)Krasovec, Tjasa论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaSikonja, Jaka论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaTansek, Mojca Zerjav论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaDebeljak, Marusa论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Vrazov Trg 1, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaIlovar, Sasa论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Pediat Cardiol, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaPodkrajsek, Katarina Trebusak论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Vrazov Trg 1, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaBertok, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaTesovnik, Tine论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Vrazov Trg 1, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaKovac, Jernej论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Vrazov Trg 1, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaOmladic, Jasna Suput论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaHartmann, Michaela F.论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ, Ctr Child & Adolescent Med, Div Pediat Endocrinol & Diabetol, Steroid Res & Mass Spectrometry Unit,Lab Translat, Feulgenstr 12, D-35392 Giessen, Germany Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaWudy, Stefan A.论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ, Ctr Child & Adolescent Med, Div Pediat Endocrinol & Diabetol, Steroid Res & Mass Spectrometry Unit,Lab Translat, Feulgenstr 12, D-35392 Giessen, Germany Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaStefanija, Magdalena Avbelj论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaBattelino, Tadej论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaKotnik, Primoz论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, SloveniaGroselj, Urh论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia Univ Ljubljana, Fac Med, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia
- [23] Long-term follow-up of three male siblings with a novel NNT pathogenic variant causing primary adrenal insufficiencyHORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 121 - 121Kotnik, Primoz论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaKrasovec, Tjasa论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaSikonja, Jaka论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaTansek, Mojca Zerjav论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaDebeljak, Marusa论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaIlovar, Sasa论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Pediat Cardiol, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaPodkrajsek, Katarina Trebusak论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaBertok, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaTesovnik, Tine论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaKovac, Jernej论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Clin Inst Special Lab Diagnost, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaOmladic, Jasna Suput论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaHartmann, Michaela F.论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ, Steroid Res & Mass Spectrometry Unit, Lab Translat Hormone Analyt, Div Pediat Endocrinol & Diabetol,Ctr Child & Adol, Giessen, Germany Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaWudy, Stefan A.论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ, Steroid Res & Mass Spectrometry Unit, Lab Translat Hormone Analyt, Div Pediat Endocrinol & Diabetol,Ctr Child & Adol, Giessen, Germany Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia论文数: 引用数: h-index:机构:Battelino, Tadej论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, SloveniaGroselj, Urh论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia Univ Ljubljana, Fac Med, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia
- [24] High-dose pyridoxine prevents glomerulosclerosis and other disease phenotypes in a human patient and a novel knock-in mouse model of SGPL1R222Q variant sphingosine phosphate lyase insufficiency syndromeJOURNAL OF INVESTIGATIVE MEDICINE, 2025, 73 (01) : 411 - 412Khan, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USAAllende, M. L.论文数: 0 引用数: 0 h-index: 0机构: NIDDKD, Bethesda, MD USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USAKhalid, E.论文数: 0 引用数: 0 h-index: 0机构: Ochsner Hlth, New Orleans, LA USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USAProia, R. L.论文数: 0 引用数: 0 h-index: 0机构: NIDDKD, Bethesda, MD USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USALee, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USAHodgin, J. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ann Arbor, MI 48109 USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USAYang, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ann Arbor, MI 48109 USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USAOskouian, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USAChang, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USASaba, J. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco, Pediat, San Francisco, CA 94143 USA