Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen, Dimitris Platis

Subjects: “…newborn screening…”
Get full text

A Review of Newborn Screening for VLCADD: The Wisconsin Experience by Breanna Mitchell, Jessica Scott-Schwoerer, Ashley Kuhl, Kristina Garcia, Patrice Held

Subjects: Get full text

Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child—first case report from Nepal by Jagdish Kunwar, Bijay Kunwar, Anup Ghimire, Aramva Bikram Adhikari, Binay Aryal, Sachchu Thapa, Bina Prajapati Manandhar

Subjects: Get full text

Obstacles to Early Diagnosis of Gaucher Disease by Nishimura S, Ma C, Sidransky E, Ryan E

Subjects: Get full text

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency by Angela Lee, Judith Weisenberg, Elizabeth Toolan, Marwan Shinawi

Subjects: Get full text

Rethinking Newborn Screening: A Case of GALM Deficiency by Eva M. M. Hoytema van Konijnenburg, Silvia Radenkovic, Klaas Koop, Hubertus C. M. T. Prinsen, Monique de Sain-van der Velden

Subjects: Get full text

Evaluation of newborn screening for biotinidase deficiency from southeastern region of Türkiye by Emine Göksoy

Subjects: Get full text

Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon by Sarah Viall, Patrice Held

Subjects: “…Newborn screening…”
Get full text

Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience by Ayşe Şenay Şaşihüseyinoğlu, Derya Ufuk Altıntaş, Atıl Bişgin, Dilek Doğruel, Mustafa Yılmaz, Mahir Serbes

Subjects: Get full text

Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study by İzzettin Toktaş, Seyfettin Sarıbaş, Semih Canpolat, Özgür Erdem, Mehmet Nuri Özbek

Subjects: Get full text

Approach to Newborns with Elevated TSH: A Different Perspective from the International Guidelines for Iodine-deficient Countries by Cengiz Kara, Hüseyin Anıl Korkmaz

Subjects: Get full text

Newborn screening for sickle cell anemia in Antalya, Türkiye by Zeynep Öztürk, O Alphan Küpesiz, Gülsün Karasu, Vedat Uygun, Nihal Oygür, M Akif Yeşilipek

Subjects: Get full text

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening by V. Gragnaniello, D. Gueraldi, A. Saracini, D. Velasquez Rivas, C. Cazzorla, L. Salviati, A.B. Burlina

Subjects: Get full text

Newborn Screening for Gaucher Disease: The New Jersey Experience by Caitlin Menello, Shaney Pressley, Madeline Steffensen, Sarah Schmidt, Helio Pedro, Reena Jethva, Karen Valdez-Gonzalez, Darius J. Adams, Punita Gupta, Lorien Tambini King, Milen Velinov, Sharon Anderson, Peyman Bizargity, Beth Pletcher, Allysa Tuite, Christina Kresge, Debra Lynn Day-Salvatore, Ryan Kuehl, Can Ficicioglu

Subjects: Get full text

Vein of Galen Malformation Detected by Newborn Cranial Ultrasound Screen with Conservative Following Up: Case Report by Chia-Jou Lin, Nan-Chang Chiu, Chun-Chao Huang, Che-Sheng Ho

Subjects: Get full text

Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study by Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Chia-Huei Chu, Chia-Cheng Hung, Yi-Ning Su, Wei-Chung Hsu, Tien-Chen Liu, Chuan-Jen Hsu, Po-Nien Tsao, Chen-Chi Wu

Subjects: “…newborn screening…”
Get full text

Clinical and molecular findings in 6 Turkish cases with Krabbe disease by Ayça Dilruba Aslanger, Esma Şengenç, Ayşe Betül Kölemen, Emine Demiral, Alpay Alkan, Akın İşcan, Gözde Yeşil

Subjects: Get full text

Public attitudes toward the research use and storage of residual dried blood spots from newborn screening in China by Xiaoshan Yin, Peiyao Wang, Yaru Liu, Kaixing Le, Ziyan Cen, Qimin He, Benqing Wu, Xinwen Huang

Subjects: “…Newborn screening…”
Get full text

N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Screening Assays by C. Austin Pickens, Samyukta Sah, Rahul Chandrappa, Samantha L. Isenberg, Elya R. Courtney, Timothy Lim, Donald H. Chace, Rachel Lee, Carla Cuthbert, Konstantinos Petritis

Subjects: “…newborn screening…”
Get full text

Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA by Dolat Singh Shekhawat, Amit Mittal, Kuldeep Singh

Subjects: Get full text