Results 251 to 260 of about 288,749 (359)

P013 Selection of a genetic test for neonatal screening of cystic fibrosis in the mixed population of Luxembourg

, 2018
M. Kulisic, I. Denine, H Barrière, Florence Fellmann, Marc Schlesser   +4 more
openalex   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Rare Variants of the SMN1 Gene Detected during Neonatal Screening. [PDF]

Genes (Basel)
Akhkiamova M, Polyakov A, Marakhonov A, Voronin S, Saifullina E, Vafina Z, Michalchuk K, Braslavskaya S, Chukhrova A, Ryadninskaya N, Kutsev S, Shchagina O.   +11 more
europepmc   +1 more source

Inborn error of metabolism screening in neonates

, 2019
Preeti Sharma, Pradeep Kumar, Rachna Sharma, K Mahapatra, Gaurav Gupta   +4 more
openalex   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Dietary pattern and nutritional assessment in a cohort of mothers identified by neonatal screening for cobalamin deficiency in offspring: an Italian single center experience. [PDF]

Front Nutr
Tosi M, Tagi VM, Colombo A, Cecchini A, Zobele M, Montanari C, Ferraro S, Bosetti A, Bonaventura E, Bruschi F, De Zan D, Fiore G, Cereda C, Zuccotti G, Verduci E.   +14 more
europepmc   +1 more source

Biochemical neonatal screening. [PDF]

BMJ, 1990
openaire   +2 more sources

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Molecular screening of pathogenic Escherichia coli strains isolated from dairy neonatal calves in Cordoba province, Argentina

, 2015
Natalia Picco, Fabrisio Alustiza, Romina Bellingeri, M. Grosso, Carlos Motta, Alejandro Larriestra, Claudina Vissio, Karina Tiranti, Horacio Raúl Terzolo, Ana Rita Silva Moreira, Adriana Vivas   +10 more
openalex   +1 more source