Results 121 to 130 of about 17,115 (162)

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency. [PDF]

Cureus
Baheer Abdulwahhab S, Ahmed A, Ben Omran T.   +2 more
europepmc   +1 more source

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case. [PDF]

Case Reports Immunol
Musabak U, Erdogan T, Akcay MS, Ceylaner S.   +3 more
europepmc   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors. [PDF]

J Inherit Metab Dis
Lamari F, Rossignol F, Mitchell GA.
europepmc   +1 more source

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia. [PDF]

JIMD Rep
Woidy M, Tsiakas K, Mahmud M, Eich G, Loos S, Lisfeld J, Schultz S, Tallarek AC, Hecher K, Huber TB, Muntau AC, Gramer G.   +11 more
europepmc   +1 more source

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs. [PDF]

Metabolites
Tommolini ML, Cufaro MC, Valentinuzzi S, Cicalini I, Zucchelli M, Frisco A, Simonetti S, Perrone Donnorso M, Moccia S, Bucci I, Aricò M, De Laurenzi V, Federici L, Pieragostino D, Rossi C.   +14 more
europepmc   +1 more source

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <i>SERAC1</i>. [PDF]

JIMD Rep
Marchante Pita R, Amaral R, Vilarinho L, Diogo L, Gonçalves I, Nobre S.   +5 more
europepmc   +1 more source

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy [PDF]

, 2017
Binkert, F., Blau, N., Guardamagna, O., Kierat, L., Matasovic, A., Ponzone, A., Ponzone, R., Spada, M., Viora, E.   +8 more
core  

Diagnosing and Managing Pelizaeus-Merzbacher Disease: A Pediatric Struggle. [PDF]

Clin Case Rep
Khan SA, Lamar N, Shrestha I, Bhagat S.
europepmc   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature. [PDF]

BMC Pediatr
Yamashita F, Akamine S, Chong PF, Maeda K, Kawakami S, Lee S, Ishimura M, Murayama K, Sakai Y, Kira R.   +9 more
europepmc   +1 more source