Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease

2016 ◽  
Vol 94 (11) ◽  
pp. 1076-1083 ◽  
Author(s):  
Carlos A. Saavedra-Matiz ◽  
Paola Luzi ◽  
Matthew Nichols ◽  
Joseph J. Orsini ◽  
Michele Caggana ◽  
...  
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Screening Program ◽  
New York State ◽  
Newborn Screening Program ◽  
Krabbe's Disease ◽  
York State ◽  
Krabbe’S Disease

Use of Newborn Screening Program Blood Spots for Exposure Assessment: Declining Levels of Perfluorinated Compounds in New York State Infants

2008 ◽  
Vol 42 (14) ◽  
pp. 5361-5367 ◽  
Author(s):  
Henry M. Spliethoff ◽  
Lin Tao ◽  
Shannon M. Shaver ◽  
Kenneth M. Aldous ◽  
Kenneth A. Pass ◽  
...  
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Exposure Assessment ◽  
Screening Program ◽  
New York State ◽  
Perfluorinated Compounds ◽  
Newborn Screening Program ◽  
York State ◽  
Blood Spots

α-Fetoprotein and Hypothyroidism in Infants

PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 1008-1009
Author(s):  
G. J. MIZEJEWSKI ◽  
K. A. PASS
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
New York State ◽  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Newborn Screening Program ◽  
Newborn Period ◽  
York State

To the Editor.— We recently have documented a relationship between serum α-fetoprotein (AFP) and congenital hypothyroidism (CH) in the newborn period. Previous studies in our laboratory and others had reported a relationship between elevated serum AFP and elevated thyroid-stimulating hormone (TSH)/low thyroxine T4 in newborns and infants in the first few months of life.1-4 The New York State Newborn Screening Program for CH routinely screens more than 300 000 specimens per year diagnosing 120 to 140 confirmed cases of CH annually.

Cellulose Acetate/Citrate Agar Electrophoresis of Filter Paper Hemolysates From Heel Stick

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 839-842
Author(s):  
Lewis M. Schedlbauer ◽  
Kenneth A. Pass
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Cellulose Acetate ◽  
Filter Paper ◽  
Screening Program ◽  
New York State ◽  
Medical Personnel ◽  
Health Department ◽  
York State ◽  
Set Up

In 1965, New York State Public Health Law 2500-a was enacted, mandating the screening of all newborns for phenylketonuria. The law was amended in 1974 to include testing for six other conditions, one of which is homozygous sickle cell disease. Originally, all screening was done in four semiautonomous laboratories located in Erie County (Buffalo), Onondaga County (Syracuse), New York City, and Albany County (Albany). These laboratories were set up to receive, test, and report results of all specimens in their respective regions of the state. Between 1981 and 1985, all screening was centralized at the Wadsworth Laboratories of the New York State Health Department in Albany, where in 1986 the newborn screening laboratory tested more than 288,000 specimens. Hemoglobin is screened with the two-tier procedure of Garrick et al: alkaline electrophoresis on cellulose acetate followed by acid electrophoresis on citrate agar. METHODS/PROCEDURES The average daily volume of the New York State Newborn Screening Program is 1,200 specimens, but the number of specimens can range from 800 to 3,000 per day. Specimens are collected from infant blood obtained by heel stick on Schleicher and Schuell 903 filter paper. Medical personnel are advised to collect the specimen when the infant is three to five days of age and before any planned transfusion is administered. The specimens are air dried and mailed to the laboratory within 24 hours of collection. When received in the laboratory accessioning unit, the specimens are examined to determine their suitability for testing. Specimens are screened for sickle hemoglobin only if there is sufficient blood on the filter paper and the date of collection to date of laboratory receipt is less than 14 day.

Newborn Screening for Cystic Fibrosis in New York State: In Reply

PEDIATRICS ◽  
2007 ◽  
Vol 120 (1) ◽  
pp. 241-243
Author(s):  
R. Giusti ◽  
A. Badgwell ◽  
A. D. Iglesias
Keyword(s):  
Cystic Fibrosis ◽  
New York ◽  
Newborn Screening ◽  
New York State ◽  
York State

New York State screening program for fragile X syndrome: A progress report

1992 ◽  
Vol 43 (1-2) ◽  
pp. 328-332 ◽  
Author(s):  
Sarah L. Nolin ◽  
Donald A. Snider ◽  
Edmund C. Jenkins ◽  
Carl S. Dobkin ◽  
Kathleen Patchell ◽  
...  
Keyword(s):  
New York ◽  
Fragile X Syndrome ◽  
Screening Program ◽  
Fragile X ◽  
New York State ◽  
Progress Report ◽  
York State

scholarly journals The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

2018 ◽  
Vol 21 (3) ◽  
pp. 631-640 ◽  
Author(s):  
Melissa P. Wasserstein ◽  
Michele Caggana ◽  
Sean M. Bailey ◽  
Robert J. Desnick ◽  
Lisa Edelmann ◽  
...  
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Screening Program ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Newborn Screening Program ◽  
Storage Diseases
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