Long-term outcomes in Amish patients diagnosed with propionic acidemia

Jessica Scott Schwoerer; Sarah Clowes Candadai; Patrice K. Held

doi:10.1016/j.ymgmr.2018.05.004

Long-term outcomes in Amish patients diagnosed with propionic acidemia

Jessica Scott Schwoerer, Sarah Clowes Candadai, Patrice K. Held

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

16 Scopus citations

Abstract

Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.

Original language	English (US)
Pages (from-to)	36-38
Number of pages	3
Journal	Molecular Genetics and Metabolism Reports
Volume	16
DOIs	https://doi.org/10.1016/j.ymgmr.2018.05.004
State	Published - Sep 2018
Externally published	Yes

Keywords

Amish
Newborn screening
Propionic acidemia

ASJC Scopus subject areas

Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgmr.2018.05.004

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title = "Long-term outcomes in Amish patients diagnosed with propionic acidemia",

abstract = "Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.",

keywords = "Amish, Newborn screening, Propionic acidemia",

author = "{Scott Schwoerer}, Jessica and {Clowes Candadai}, Sarah and Held, {Patrice K.}",

note = "Publisher Copyright: {\textcopyright} 2018",

year = "2018",

month = sep,

doi = "10.1016/j.ymgmr.2018.05.004",

language = "English (US)",

volume = "16",

pages = "36--38",

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AU - Scott Schwoerer, Jessica

AU - Clowes Candadai, Sarah

AU - Held, Patrice K.

PY - 2018/9

Y1 - 2018/9

N2 - Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.

AB - Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.

KW - Amish

KW - Newborn screening

KW - Propionic acidemia

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VL - 16

SP - 36

EP - 38

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

ER -

Long-term outcomes in Amish patients diagnosed with propionic acidemia

Abstract

Keywords

ASJC Scopus subject areas

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