Neonatal screening for biotinidase deficiency in East-Hungary

1991 ◽  
Vol 14 (6) ◽  
pp. 928-931 ◽  
Author(s):  
Z. Havass
Keyword(s):  
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

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.

scholarly journals Neonatal screening for biotinidase deficiency: A 30-year single center experience

2017 ◽  
Vol 13 ◽  
pp. 80-82 ◽  
Author(s):  
Francesco Porta ◽  
Veronica Pagliardini ◽  
Isabella Celestino ◽  
Enza Pavanello ◽  
Severo Pagliardini ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Biotinidase Deficiency ◽  
Single Center ◽  
Single Center Experience

scholarly journals 875 BIOTINIDASE DEFICIENCY DETECTED BY A STATEWIDE NEONATAL SCREENING PROGRAM

1985 ◽  
Vol 19 (4) ◽  
pp. 256A-256A ◽  
Author(s):  
Barry Wolf ◽  
Gregory S Heard ◽  
Linda G Jefferson ◽  
Walter E Nance ◽  
Karen A Weissbecker
Keyword(s):  
Neonatal Screening ◽  
Screening Program ◽  
Biotinidase Deficiency ◽  
Neonatal Screening Program

Biotinidase deficiency: clinical and diagnosis aspects and neonatal screening

2014 ◽  
Vol 24 (3) ◽  
Author(s):  
Marilis Tissot Lara ◽  
Marcos José Burle de Aguiar ◽  
Juliana Gurgel Giannetti ◽  
José Nélio Januári
Keyword(s):  
Neonatal Screening ◽  
Biotinidase Deficiency

scholarly journals Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

2016 ◽  
Vol 24 (10) ◽  
pp. 1424-1429 ◽  
Author(s):  
Rachel C Wiltink ◽  
Michelle E Kruijshaar ◽  
Rick van Minkelen ◽  
Willem Onkenhout ◽  
Frans W Verheijen ◽  
...  
Keyword(s):  
The Netherlands ◽  
Neonatal Screening ◽  
Biotinidase Deficiency

Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

2003 ◽  
Vol 26 (7) ◽  
pp. 693-698 ◽  
Author(s):  
Á. László ◽  
É. Á. Schuler ◽  
É. Sallay ◽  
E. Endreffy ◽  
Cs. Somogyi ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Biotinidase Deficiency ◽  
Molecular Studies

Biotinidase deficiency: from neonatal screening to diagnostic confirmation and treatment

2016 ◽  
Vol 26 ◽  
Author(s):  
Rodrigo Rezende Arantes ◽  
Valéria de Melo Rodrigues ◽  
Rocksane de Carvalho Norton ◽  
Ana Lúcia Pimenta Starling
Keyword(s):  
Neonatal Screening ◽  
Biotinidase Deficiency
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