Neonatal screening for biotinidase deficiency. A pilot study in scotland

1989 ◽  
Vol 12 (3) ◽  
pp. 344-345 ◽  
Author(s):  
R. Kennedy ◽  
R. W. A. Girdwood ◽  
M. D. King
Keyword(s):  
Pilot Study ◽  
Neonatal Screening ◽  
Biotinidase Deficiency

A screening method for biotinidase deficiency in newborns.

1984 ◽  
Vol 30 (1) ◽  
pp. 125-127 ◽  
Author(s):  
G S Heard ◽  
J R Secor McVoy ◽  
B Wolf
Keyword(s):  
Pilot Study ◽  
Whole Blood ◽  
Neonatal Screening ◽  
Screening Method ◽  
Biotinidase Deficiency ◽  
Blood Spots ◽  
Filter Papers ◽  
Biotinidase Activity

Abstract We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency. Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria. After the reaction, samples from normal infants are characteristically purple, whereas those from affected individuals are straw-colored. To confirm the deficiency, the enzyme is quantitatively assayed in additional blood spots or serum. A pilot study has been initiated with samples obtained by the Commonwealth of Virginia for phenylketonuria testing.

Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study

1986 ◽  
Vol 108 (1) ◽  
pp. 40-46 ◽  
Author(s):  
Gregory S. Heard ◽  
Barry Wolf ◽  
Linda G. Jefferson ◽  
Karen A. Weissbecker ◽  
Walter E. Nance ◽  
...  
Keyword(s):  
Pilot Study ◽  
Neonatal Screening ◽  
Biotinidase Deficiency

Neonatal screening for biotinidase deficiency in north eastern italy

1988 ◽  
Vol 147 (3) ◽  
pp. 317-318 ◽  
Author(s):  
A. B. Burlina ◽  
W. G. Sherwood ◽  
M. V. Marchioro ◽  
B. Dalla Bernardina ◽  
D. Gaburro
Keyword(s):  
Neonatal Screening ◽  
Biotinidase Deficiency ◽  
North Eastern

Neonatal screening for congenital adrenal hyperplasia: a pilot study in France

1986 ◽  
Vol 9 (S1) ◽  
pp. 147-151 ◽  
Author(s):  
J. L. Dhondt ◽  
C. Dorche ◽  
J. P. Farriaux ◽  
C. Courte
Keyword(s):  
Pilot Study ◽  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia

A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopaenia

2014 ◽  
Vol 81 (5) ◽  
pp. 310-317 ◽  
Author(s):  
P. Olbrich ◽  
B. de Felipe ◽  
C. Delgado-Pecellin ◽  
R. Rodero ◽  
P. Rojas ◽  
...  
Keyword(s):  
Pilot Study ◽  
B Cell ◽  
Neonatal Screening ◽  
Primary Immunodeficiencies

SHORT REPORT: NEONATAL SCREENING PILOT STUDY OF TOXOPLASMA GONDII CONGENITAL INFECTION IN MEXICO

2005 ◽  
Vol 72 (2) ◽  
pp. 142-144 ◽  
Author(s):  
MARCELA VELA-AMIEVA ◽  
PEDRO GUTIÉRREZ-CASTRELLÓN ◽  
MARIA DE LA LUZ GALVÁN-RAMÍREZ ◽  
DOLORES CORREA ◽  
VENANCIO ORTEGA-VELÁZQUEZ ◽  
...  
Keyword(s):  
Pilot Study ◽  
Toxoplasma Gondii ◽  
Neonatal Screening ◽  
Congenital Infection ◽  
Short Report

scholarly journals Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

2018 ◽  
Vol 12 ◽  
pp. 39-45 ◽  
Author(s):  
Magd A. Kotb ◽  
Lobna Mansour ◽  
Christine William Shaker Basanti ◽  
Wael El Garf ◽  
Ghada I.Z. Ali ◽  
...  
Keyword(s):  
Pilot Study ◽  
Neonatal Screening ◽  
Classic Galactosemia
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