Supplementary Materials

Supplementary Material for:

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

Xuntian Jiang, Rohini Sidhu, Laurel Mydock-McGrane, Fong-Fu Hsu, Douglas F. Covey, David E. Scherrer, Brian Earley, Sarah E. Gale, Nicole Y. Farhat, Forbes D. Porter, Dennis J. Dietzen, Joseph J. Orsini, Elizabeth Berry-Kravis, Xiaokui Zhang, Janice Reunert, Thorsten Marquardt, Heiko Runz, Roberto Giugliani, Jean E. Schaffer, Daniel S. Ory*

*Corresponding author. Email: dory{at}wustl.edu

Published 4 May 2016, Sci. Transl. Med. 8, 337ra63 (2016)
DOI: 10.1126/scitranslmed.aaf2326

This PDF file includes:

  • Materials and Methods
  • Fig. S1. Structures of bile acids and analogs used to study fragmentation patterns of the AMPP derivatives.
  • Fig. S2. HCD mass spectra of AMPP-derivatized bile acids 1 (A), 2 (B), 3 (C), 4 (D), 5 (E), 6 (F), 7 (G), 8 (H), 9 (I), and 10 (J).
  • Fig. S3. Proposed fragmentation pathway to fragments A to H in AMPP derivatives of unconjugated bile acids 1 to 7.
  • Fig. S4. Proposed fragmentation pathway to fragments I to K in AMPP derivatives of unconjugated bile acids 1 to 7.
  • Fig. S5. Proposed fragmentation pathway to fragments L (L′) to M (M′) in AMPP derivatives of unconjugated bile acids 1 to 7.
  • Fig. S6. Proposed fragmentation pathway to fragments N to P in AMPP derivatives of unconjugated bile acids 1 to 6.
  • Fig. S7. Proposed fragmentation pathway to fragments Q to T in AMPP derivatives of unconjugated bile acids 1 to 7.
  • Fig. S8. Proposed fragmentation pathway to fragments GA to GE and GH in AMPP derivatives of glycine-conjugated bile acids 8 to 10.
  • Fig. S9. Proposed fragmentation pathway to fragments GF, GG, and GI in AMPP derivatives of glycine-conjugated bile acids 8 to 10.
  • Fig. S10. Proposed fragmentation pathway to fragments GJ to GM in AMPP derivatives of glycine-conjugated bile acids 8 to 10.
  • Fig. S11. Proposed fragmentation pathway to fragments GN to GW in AMPP derivatives of glycine-conjugated bile acids 8 to 10.
  • Fig. S12. Proposed fragmentation pathway to fragments GX to GZ and GAA to GAB in glycine-conjugated bile acid AMPP derivatives.
  • Fig. S13. Comparison of chromatograms and HCD mass spectra of AMPP derivatives of bile acids A and B in NPC plasma and solutions of synthetic compounds.
  • Fig. S14. Structures of bile acid markers for NPC.
  • Fig. S15. Comparison of chromatograms of bile acids A and B in NPC1 plasma and solutions of synthetic compounds.
  • Fig. S16. Correlation of bile acid B concentrations with patient parameters.
  • Table S1. Accurate masses and calculated elemental composition of fragment ions of 21,26,27-trinorcholestan-25-oic acid-3β,5α,6β-triol and bile acid A AMPP derivatives.
  • Table S2. Accurate masses and calculated elemental composition of fragment ions of bile acid B AMPP derivative.
  • Table S3. Accurate masses and calculated elemental composition of fragment ions of DCA, CDCA, and 5β-cholanic acid-3α,4β,7α-triol AMPP derivatives.
  • Table S4. Accurate masses and calculated elemental composition of fragment ions of CA, α-muricholic acid, and β-muricholic acid AMPP derivatives.
  • Table S5. Accurate masses and calculated elemental composition of fragment ions of GCA, GCDCA, and GDCA AMPP derivatives.
  • Table S6. MRM transitions and MS parameters for bile acids in the first-tier marker screening.
  • Table S7. MRM transitions and MS parameters for bile acids in the second-tier marker screening.
  • Table S8. Accuracy and precision of QC samples.
  • References (4042)

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