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 in North-Eastern Italy: A Report Three Years into the Program

2005 ◽  
Vol 63 (4) ◽  
pp. 180-186 ◽  
Author(s):  
Paolo Cavarzere ◽  
Marta Camilot ◽  
Francesca Teofoli ◽  
Luciano Tatò
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Adrenal Hyperplasia ◽  
North Eastern

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: An Update

1986 ◽  
pp. 303-306 ◽  
Author(s):  
B. Wolf ◽  
G. S. Heard ◽  
L. G. Jefferson ◽  
K. A. Weissbecker ◽  
J. R. Secor McVoy ◽  
...  
Keyword(s):  
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.

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 Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management

2016 ◽  
Vol 175 (5) ◽  
pp. 395-402 ◽  
Author(s):  
Paolo Cavarzere ◽  
Marta Camilot ◽  
Florina Ion Popa ◽  
Silvana Lauriola ◽  
Francesca Teofoli ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Clinical Signs ◽  
Screening Strategy ◽  
Normal Serum ◽  
Low Birth Weight Infants ◽  
North Eastern ◽  
Confirmatory Tests

Objective To evaluate the incidence of congenital hypothyroidism (CH) with delayed TSH elevation among low-birth-weight (LBW) newborns in North-Eastern Italy and to verify if they need a second or third screening. Design Analysis of clinical and biochemical data of newborns affected by CH with delayed TSH elevation identified by neonatal screening. Methods Data of all newborns with birth weight (BW) <2500 g and evidence of delayed TSH elevation at newborn screening were collected between 2011 and 2014. Confirmatory tests were based on serum TSH and FT4 levels. All their clinical signs at diagnosis were reported. Results 57.5% of LBW newborns with delayed TSH increase at neonatal screening presented a CH with delayed TSH elevation and began a treatment with l-thyroxine. The incidence of this condition in North-Eastern Italy is therefore 1:908. The remaining infants presented a subclinical hypothyroidism (21.25%) or a complete normal serum thyroid function (21.25%). These data could be drawn only from a retesting strategy of neonatal screening. Conclusions Our report describes the incidence of CH with delayed TSH rise in North-Eastern Italy and differentiates this clinical condition from other thyroid dysfunctions of preterm or LBW newborns. The second-screening strategy for CH in neonates with BW < 2500 g proved useful in detecting newborns who otherwise would not be identified at the first screening.

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
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