These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 35308304)

  • 1. Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
    Maharaj A; Güran T; Buonocore F; Achermann JC; Metherell L; Prasad R; Çetinkaya S
    J Endocr Soc; 2022 May; 6(5):bvac020. PubMed ID: 35308304
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
    Maharaj A; Theodorou D; Banerjee II; Metherell LA; Prasad R; Wallace D
    Front Pediatr; 2020; 8():151. PubMed ID: 32322566
    [No Abstract]   [Full Text] [Related]  

  • 3. A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
    Maharaj A; Kwong R; Williams J; Smith C; Storr H; Krone R; Braslavsky D; Clemente M; Ram N; Banerjee I; Çetinkaya S; Buonocore F; Güran T; Achermann JC; Metherell L; Prasad R
    Endocr Connect; 2022 Aug; 11(8):. PubMed ID: 35904228
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.
    Büyükyılmaz G; Adıgüzel KT; Aksoy ÖY; Kasapkara ÇS; Demir GÜ; Demir E; Ergun ŞB; Gürbüz F; Boyraz M
    Turk J Pediatr; 2023; 65(6):1025-1032. PubMed ID: 38204317
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.
    Ron HA; Scobell R; Strong A; Salazar EG; Ganetzky R
    Am J Med Genet A; 2022 Nov; 188(11):3312-3317. PubMed ID: 35972040
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
    Janecke AR; Xu R; Steichen-Gersdorf E; Waldegger S; Entenmann A; Giner T; Krainer I; Huber LA; Hess MW; Frishberg Y; Barash H; Tzur S; Schreyer-Shafir N; Sukenik-Halevy R; Zehavi T; Raas-Rothschild A; Mao C; Müller T
    Hum Mutat; 2017 Apr; 38(4):365-372. PubMed ID: 28181337
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.
    Keller N; Midgley J; Khalid E; Lesmana H; Mathew G; Mincham C; Teig N; Khan Z; Khosla I; Mehr S; Guran T; Buder K; Xu H; Alhasan K; Buyukyilmaz G; Weaver N; Saba JD
    Orphanet J Rare Dis; 2024 Sep; 19(1):355. PubMed ID: 39334450
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism.
    Choi YJ; Saba JD
    Adv Biol Regul; 2019 Jan; 71():128-140. PubMed ID: 30274713
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sphingosine phosphate lyase insufficiency syndrome: a systematic review.
    Pournasiri Z; Madani A; Nazarpack F; Sayer JA; Chavoshzadeh Z; Nili F; Tran P; Saba JD; Jamee M
    World J Pediatr; 2023 May; 19(5):425-437. PubMed ID: 36371483
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature.
    Tastemel Ozturk T; Canpolat N; Saygili S; Bayrakci US; Soylemezoglu O; Ozaltin F; Topaloglu R
    Pediatr Nephrol; 2023 Mar; 38(3):711-719. PubMed ID: 35748945
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation.
    Smith CJ; Williams JL; Hall C; Casas J; Caley MP; O'Toole EA; Prasad R; Metherell LA
    J Lipid Res; 2023 Apr; 64(4):100351. PubMed ID: 36868360
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
    Settas N; Persky R; Faucz FR; Sheanon N; Voutetakis A; Lodish M; Metherell LA; Stratakis CA
    J Clin Endocrinol Metab; 2019 May; 104(5):1484-1490. PubMed ID: 30517686
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
    Prasad R; Hadjidemetriou I; Maharaj A; Meimaridou E; Buonocore F; Saleem M; Hurcombe J; Bierzynska A; Barbagelata E; Bergadá I; Cassinelli H; Das U; Krone R; Hacihamdioglu B; Sari E; Yesilkaya E; Storr HL; Clemente M; Fernandez-Cancio M; Camats N; Ram N; Achermann JC; Van Veldhoven PP; Guasti L; Braslavsky D; Guran T; Metherell LA
    J Clin Invest; 2017 Mar; 127(3):942-953. PubMed ID: 28165343
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma.
    Williams JL; Smith C; Hall C; Khaled Z; Maharaj A; Kwong R; Pittaway J; Casas J; Parvanta L; Abdel-Aziz TE; Palazzo F; Chung TT; Guasti L; Metherell L; Prasad R
    Eur J Endocrinol; 2023 Jan; 188(1):. PubMed ID: 36651165
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype/Phenotype Interactions and First Steps Toward Targeted Therapy for Sphingosine Phosphate Lyase Insufficiency Syndrome.
    Saba JD; Keller N; Wang JY; Tang F; Slavin A; Shen Y
    Cell Biochem Biophys; 2021 Sep; 79(3):547-559. PubMed ID: 34133011
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Combined novel homozygous variants in both
    Roa-Bautista A; Sohail M; Wakeling E; Gilmour KC; Davis M; Gait A; Lucchini G; Cox D; Elfeky R; Kusters M
    Front Immunol; 2023; 14():1186575. PubMed ID: 37377976
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome.
    Zhao P; Tassew GB; Lee JY; Oskouian B; Muñoz DP; Hodgin JB; Watson GL; Tang F; Wang JY; Luo J; Yang Y; King S; Krauss RM; Keller N; Saba JD
    JCI Insight; 2021 Apr; 6(8):. PubMed ID: 33755599
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
    Zhao P; Liu ID; Hodgin JB; Benke PI; Selva J; Torta F; Wenk MR; Endrizzi JA; West O; Ou W; Tang E; Goh DL; Tay SK; Yap HK; Loh A; Weaver N; Sullivan B; Larson A; Cooper MA; Alhasan K; Alangari AA; Salim S; Gumus E; Chen K; Zenker M; Hildebrandt F; Saba JD
    J Inherit Metab Dis; 2020 Sep; 43(5):1131-1142. PubMed ID: 32233035
    [TBL] [Abstract][Full Text] [Related]  

  • 19. AAV-SPL 2.0, a Modified Adeno-Associated Virus Gene Therapy Agent for the Treatment of Sphingosine Phosphate Lyase Insufficiency Syndrome.
    Khan R; Oskouian B; Lee JY; Hodgin JB; Yang Y; Tassew G; Saba JD
    Int J Mol Sci; 2023 Oct; 24(21):. PubMed ID: 37958544
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.