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1.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
J Med Genet
; 60(12): 1177-1185, 2023 Nov 27.
Article
in English
| MEDLINE | ID: mdl-37487700
2.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
J Inherit Metab Dis
; 45(4): 804-818, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35383965
3.
Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20.
Int J Neonatal Screen
; 9(1)2023 Feb 15.
Article
in English
| MEDLINE | ID: mdl-36810319
4.
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
JIMD Rep
; 64(1): 57-64, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36636597
5.
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.
Int J Neonatal Screen
; 9(3)2023 Jun 21.
Article
in English
| MEDLINE | ID: mdl-37489487
6.
Neonatal carnitine concentrations in relation to gestational age and weight.
JIMD Rep
; 56(1): 95-104, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-33204600
7.
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
JIMD Rep
; 54(1): 68-78, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32685353
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