✦ LIBER ✦

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

✍ Scribed by Reena Jethva; Can Ficicioglu

Book ID: 116988413
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 113 KB
Volume: 95
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2008.09.003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Biochemical, molecular, and clinical cha

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

✍ Natalie M. Gallant; Karen Leydiker; Hao Tang; Lisa Feuchtbaum; Fred Lorey; Rebec 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 272 KB

Prevalence and mutation analysis of shor

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

✍ Van Calcar, Sandra C.; Baker, Mei W.; Williams, Phillip; Jones, Susan A.; Xiong, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 191 KB

Positive Newborn Screen in a Normal Infa

Positive Newborn Screen in a Normal Infant of a Mother with Asymptomatic Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

✍ Robin R. McGoey; Michael Marble 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 90 KB

Diagnosis of a patient with a kinetic va

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening

✍ Laura Vilarinho; Jorge Sales Marques; Hugo Rocha; Altina Ramos; Lurdes Lopes; Sr 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 364 KB

Analysis of polymerase chain reaction-pr

Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency

✍ Hidetoshi Arakawa; Kunio Uetanaka; Masako Maeda; Akio Tsuji; Yoichi Matsubara; K 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 528 KB

Medium-Chain Acyl-CoA Dehydrogenase (MCA

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

✍ Brage Storstein Andresen; Steve F. Dobrowolski; Linda O'Reilly; Joseph Muenzer; 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 859 KB