scholarly journals Epilepsy in Biotinidase Deficiency After Biotin Treatment

2011 ◽  
pp. 75-78 ◽  
Author(s):  
Salvador Ibáñez Micó ◽  
Rosario Domingo Jiménez ◽  
Eduardo Martínez Salcedo ◽  
Helena Alarcón Martínez ◽  
Alberto Puche Mira ◽  
...  
Keyword(s):  
Biotinidase Deficiency

scholarly journals Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

2021 ◽  
Author(s):  
Jia Geng ◽  
Yi Sun ◽  
Yi Zhao ◽  
Wenyu Xiong ◽  
Mingjun Zhong ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Chinese Patient

Partial biotinidase deficiency: Clinical and biochemical features

1990 ◽  
Vol 116 (1) ◽  
pp. 78-83 ◽  
Author(s):  
Julie R. Secor McVoy ◽  
Harvey L. Levy ◽  
Michael Lawler ◽  
Michael A. Schmidt ◽  
Douglas D. Ebers ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Biochemical Features

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

Biotinidase Deficiency: a Treatable Leukoencephalopathy

2004 ◽  
Vol 35 (4) ◽  
pp. 211-216 ◽  
Author(s):  
S. Grünewald ◽  
M. P. Champion ◽  
J. V. Leonard ◽  
J. Schaper ◽  
A. A. M. Morris
Keyword(s):  
Biotinidase Deficiency

Issues in State Newborn Screening Programs

PEDIATRICS ◽  
1992 ◽  
Vol 90 (4) ◽  
pp. 641-646 ◽  
Author(s):  
ELLEN WRIGHT CLAYTON
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Medical Literature ◽  
Biotinidase Deficiency ◽  
New Techniques ◽  
Genetic Characteristics ◽  
Screening Programs ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Grand Rounds

These are heady times for newborn screening. Articles in the medical literature and speakers at grand rounds urge us to test babies for disorders, including cystic fibrosis,1 biotinidase deficiency,2 and medium-chain acyl coenzyme A dehydrogenase deficiency.3 States are expanding the batteries of tests they perform. My own state of Tennessee just began testing neonates for galactosemia this year. And this is no doubt just the beginning. New techniques are being developed that will make it possible to look for a host of genetic characteristics using microscopic amounts of blood. We soon may be able to discern many conditions and characteristics of our children.

Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country

2021 ◽  
Vol 67 (06/2021) ◽  
Author(s):  
Sibtain Ahmed ◽  
Min Ni ◽  
Ralph DeBerardinis ◽  
Anasufiza Habib ◽  
Fizza Akbar ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Middle Income Country ◽  
Molecular Spectrum ◽  
Income Country ◽  
Middle Income ◽  
Lower Middle Income Country

Requirement of high biotin doses in a case of biotinidase deficiency

1989 ◽  
Vol 12 (3) ◽  
pp. 338-339 ◽  
Author(s):  
E. Riudor ◽  
M. A. Vilaseca ◽  
P. Briones ◽  
A. Ribes ◽  
J. Suñé ◽  
...  
Keyword(s):  
Biotinidase Deficiency

scholarly journals Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration

2012 ◽  
Vol 47 (3) ◽  
pp. 428-435 ◽  
Author(s):  
Kirit Pindolia ◽  
Jieli Chen ◽  
Cisley Cardwell ◽  
Xu Cui ◽  
Michael Chopp ◽  
...  
Keyword(s):  
Axonal Degeneration ◽  
Biotinidase Deficiency ◽  
Neurological Deficits
Sign in / Sign up

Export Citation Format

Share Document