scholarly journals A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Igor Ribeiro Ferreira ◽  
Régis Afonso Costa ◽  
Leonardo Henrique Ferreira Gomes ◽  
Wilton Darleans dos Santos Cunha ◽  
Latife Salomão Tyszler ◽  
...  
Keyword(s):  
Pilot Study ◽  
High Resolution ◽  
Newborn Screening ◽  
High Resolution Melting ◽  
Dried Blood Spots ◽  
Blood Spots

Newborn screening for Pompe disease with dried blood spots in a Japanese region: a pilot study

2014 ◽  
Vol 111 (2) ◽  
pp. S79
Author(s):  
Ken Momosaki ◽  
Shirou Matsumoto ◽  
Kimitoshi Nakamura ◽  
Hiroshi Mitsubuchi ◽  
Toshika Okumiya ◽  
...  
Keyword(s):  
Pilot Study ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Dried Blood Spots ◽  
Blood Spots

High-resolution melting (HRM) analysis as a feasible method for detecting spinal muscular atrophy via dried blood spots

2012 ◽  
Vol 413 (21-22) ◽  
pp. 1781-1785 ◽  
Author(s):  
Tze-Kiong Er ◽  
Tzu-Min Kan ◽  
Yu-Fa Su ◽  
Ta-Chih Liu ◽  
Jan-Gowth Chang ◽  
...  
Keyword(s):  
High Resolution ◽  
Spinal Muscular Atrophy ◽  
High Resolution Melting ◽  
Muscular Atrophy ◽  
Dried Blood Spots ◽  
Feasible Method ◽  
Blood Spots ◽  
Hrm Analysis

scholarly journals Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

2020 ◽  
Vol 216 ◽  
pp. 204-207 ◽  
Author(s):  
Clifford Ronald Scott ◽  
Susan Elliott ◽  
Xinying Hong ◽  
Jie-Yu Huang ◽  
Arun Babu Kumar ◽  
...  
Keyword(s):  
Pilot Study ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy

2021 ◽  
Vol 26 ◽  
pp. 100720
Author(s):  
Archana Natarajan ◽  
Rita Christopher ◽  
Shruti V. Palakuzhiyil ◽  
Sadanandavalli Retnaswami Chandra
Keyword(s):  
Newborn Screening ◽  
Dried Blood Spots ◽  
Fatty Acyl ◽  
Blood Spots ◽  
Long Chain
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