Infantile Refsum disease in four Amish sibs

Patricia I. Bader; Susannah Dougherty; Nancy Cangany; Gerald Raymond; Charles E. Jackson

doi:10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23

Infantile Refsum disease in four Amish sibs

Patricia I. Bader
, Susannah Dougherty
, Nancy Cangany
, Gerald Raymond
, Charles E. Jackson

Department of Pediatrics

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

21 Scopus citations

Abstract

Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.

Original language	English (US)
Pages (from-to)	110-114
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	90
Issue number	2
DOIs	https://doi.org/10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23
State	Published - Jan 17 2000

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23

Cite this

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title = "Infantile Refsum disease in four Amish sibs",

abstract = "Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.",

author = "Bader, \{Patricia I.\} and Susannah Dougherty and Nancy Cangany and Gerald Raymond and Jackson, \{Charles E.\}",

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T1 - Infantile Refsum disease in four Amish sibs

AU - Bader, Patricia I.

AU - Dougherty, Susannah

AU - Cangany, Nancy

AU - Raymond, Gerald

AU - Jackson, Charles E.

PY - 2000/1/17

Y1 - 2000/1/17

N2 - Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.

AB - Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.

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U2 - 10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23

DO - 10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23

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EP - 114

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 2

ER -

Infantile Refsum disease in four Amish sibs

Abstract

All Science Journal Classification (ASJC) codes

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