Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol

Stephan Lobitz; Claudia Frömmel; Annemarie Brose; Oliver Blankenstein; Charles Turner; R. Neil Dalton; Yvonne Daniel; Jeannette Klein

doi:10.1007/s00277-022-04811-0

Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol

Stephan Lobitz^*, Claudia Frömmel, Annemarie Brose, Oliver Blankenstein, Charles Turner, R. Neil Dalton, Yvonne Daniel, Jeannette Klein

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

Original language	English
Journal	Annals of Hematology
DOIs	https://doi.org/10.1007/s00277-022-04811-0
Publication status	Accepted/In press - 2022
Externally published	Yes

Bibliographical note

Funding Information:
We are deeply indebted to all patients and their families who took part in this project. We are very grateful to “Kindness for Kids – Stiftung für Kinder mit Seltenen Erkrankungen” and “Eva Luise und Horst Köhler Stiftung” for their generous financial support. We thank SpOtOn Clinical Diagnostics for providing the reagents evaluated in this study free of charge.

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10.1007/s00277-022-04811-0

Cite this

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title = "Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol",

author = "Stephan Lobitz and Claudia Fr{\"o}mmel and Annemarie Brose and Oliver Blankenstein and Charles Turner and Dalton, {R. Neil} and Yvonne Daniel and Jeannette Klein",

note = "Funding Information: We are deeply indebted to all patients and their families who took part in this project. We are very grateful to “Kindness for Kids – Stiftung f{\"u}r Kinder mit Seltenen Erkrankungen” and “Eva Luise und Horst K{\"o}hler Stiftung” for their generous financial support. We thank SpOtOn Clinical Diagnostics for providing the reagents evaluated in this study free of charge. ",

year = "2022",

doi = "10.1007/s00277-022-04811-0",

language = "English",

journal = "Annals of Hematology",

issn = "0939-5555",

publisher = "Springer",

}

Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol. / Lobitz, Stephan; Frömmel, Claudia; Brose, Annemarie; Blankenstein, Oliver; Turner, Charles; Dalton, R. Neil; Daniel, Yvonne; Klein, Jeannette.

In: Annals of Hematology, 2022.

Research output: Contribution to journal › Letter › peer-review

TY - JOUR

T1 - Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol

AU - Lobitz, Stephan

AU - Frömmel, Claudia

AU - Brose, Annemarie

AU - Blankenstein, Oliver

AU - Turner, Charles

AU - Dalton, R. Neil

AU - Daniel, Yvonne

AU - Klein, Jeannette

N1 - Funding Information: We are deeply indebted to all patients and their families who took part in this project. We are very grateful to “Kindness for Kids – Stiftung für Kinder mit Seltenen Erkrankungen” and “Eva Luise und Horst Köhler Stiftung” for their generous financial support. We thank SpOtOn Clinical Diagnostics for providing the reagents evaluated in this study free of charge.

PY - 2022

Y1 - 2022

UR - http://www.scopus.com/inward/record.url?scp=85126305527&partnerID=8YFLogxK

U2 - 10.1007/s00277-022-04811-0

DO - 10.1007/s00277-022-04811-0

M3 - Letter

AN - SCOPUS:85126305527

JO - Annals of Hematology

JF - Annals of Hematology

SN - 0939-5555

ER -

Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol

Bibliographical note

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