IN-UTERO DETECTION OF POMPE'S DISEASE

RodyP Cox; Gordon Douglas; Joel Hutzler; Joshua Lynfield; Joseph Dancis

doi:10.1016/S0140-6736(70)91716-2

IN-UTERO DETECTION OF POMPE'S DISEASE

RodyP Cox, Gordon Douglas, Joel Hutzler, Joshua Lynfield, Joseph Dancis

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

Original language	English (US)
Pages (from-to)	893
Number of pages	1
Journal	The Lancet
Volume	295
Issue number	7652
DOIs	https://doi.org/10.1016/S0140-6736(70)91716-2
State	Published - Apr 25 1970

ASJC Scopus subject areas

Medicine(all)

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10.1016/S0140-6736(70)91716-2

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@article{1a3f4a7caed7483999576129528a3cc1,

title = "IN-UTERO DETECTION OF POMPE'S DISEASE",

author = "RodyP Cox and Gordon Douglas and Joel Hutzler and Joshua Lynfield and Joseph Dancis",

note = "Funding Information: disease appears to be the elimination of all cellular elements by centrifugation, and analysis of the supernatant fluid. The <x-l,4-glucosidase is present in normal amniotic fluid, as demonstrated by Nadler and Messina and confirmed in the present study, and is missing in Pompe{\textquoteright}s disease.l With other metabolic anomalies, differential removal of the cells might provide a solution. Neutrophils may be largely eliminated by incubating the cells with iron-fillings and then subjecting them to a magnetic field. Amniotic cells do not share this phagocytic activity (unpublished observation), and so will not be removed. With some of the sphingolipoidoses, where the defective enzyme is largely concentrated in the neutrophils,3 this manoeuvre could remove possible sources of error. The erythrocyte popula- tion may be considerably reduced by low-speed centrifuga- tion or by pulsing with hypotonic solutions; both pro- cedures will spare amniotic cells. A method for separating the lymphocyte from the amniotic cell has not so far been described. In the course of routine tissue-culture, however, the cells present in peripheral blood do not survive, permitting a definitive investigation of the descendants of the amniotic cells, the procedure that was followed in the present study. This work was supported by grants from the USPHS (GM15508 and HD02920) and from the Health Research Council of the City of New York. R. C. is a career scientist of the Health Research Council of the City of New York and J. D. is a career investigator of the National Institute of Child Health and Human Develonment.",

year = "1970",

month = apr,

day = "25",

doi = "10.1016/S0140-6736(70)91716-2",

language = "English (US)",

volume = "295",

pages = "893",

journal = "The Lancet",

issn = "0140-6736",

publisher = "Elsevier Limited",

number = "7652",

}

TY - JOUR

T1 - IN-UTERO DETECTION OF POMPE'S DISEASE

AU - Cox, RodyP

AU - Douglas, Gordon

AU - Hutzler, Joel

AU - Lynfield, Joshua

AU - Dancis, Joseph

N1 - Funding Information: disease appears to be the elimination of all cellular elements by centrifugation, and analysis of the supernatant fluid. The <x-l,4-glucosidase is present in normal amniotic fluid, as demonstrated by Nadler and Messina and confirmed in the present study, and is missing in Pompe’s disease.l With other metabolic anomalies, differential removal of the cells might provide a solution. Neutrophils may be largely eliminated by incubating the cells with iron-fillings and then subjecting them to a magnetic field. Amniotic cells do not share this phagocytic activity (unpublished observation), and so will not be removed. With some of the sphingolipoidoses, where the defective enzyme is largely concentrated in the neutrophils,3 this manoeuvre could remove possible sources of error. The erythrocyte popula- tion may be considerably reduced by low-speed centrifuga- tion or by pulsing with hypotonic solutions; both pro- cedures will spare amniotic cells. A method for separating the lymphocyte from the amniotic cell has not so far been described. In the course of routine tissue-culture, however, the cells present in peripheral blood do not survive, permitting a definitive investigation of the descendants of the amniotic cells, the procedure that was followed in the present study. This work was supported by grants from the USPHS (GM15508 and HD02920) and from the Health Research Council of the City of New York. R. C. is a career scientist of the Health Research Council of the City of New York and J. D. is a career investigator of the National Institute of Child Health and Human Develonment.

PY - 1970/4/25

Y1 - 1970/4/25

UR - http://www.scopus.com/inward/record.url?scp=0014961918&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0014961918&partnerID=8YFLogxK

U2 - 10.1016/S0140-6736(70)91716-2

DO - 10.1016/S0140-6736(70)91716-2

M3 - Letter

C2 - 4191530

AN - SCOPUS:0014961918

VL - 295

SP - 893

JO - The Lancet

JF - The Lancet

SN - 0140-6736

IS - 7652

ER -

IN-UTERO DETECTION OF POMPE'S DISEASE

ASJC Scopus subject areas

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