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1.
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Mol Genet Metab
; 142(3): 108508, 2024 May 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-38820906
2.
Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand.
Clin Endocrinol (Oxf)
; 94(6): 904-912, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33471388
3.
The decision to discontinue screening for carnitine uptake disorder in New Zealand.
J Inherit Metab Dis
; 42(1): 86-92, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740730
4.
Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism.
Clin Endocrinol (Oxf)
; 86(3): 431-437, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-27696498
5.
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
J Inherit Metab Dis
; 39(3): 409-414, 2016 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26743058
6.
The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives.
Front Endocrinol (Lausanne)
; 14: 1226284, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37850096
7.
The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.
JIMD Rep
; 64(2): 180-186, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36873086
8.
Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results.
Int J Neonatal Screen
; 8(2)2022 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35645284
9.
Introducing Newborn Screening for Severe Combined Immunodeficiency-The New Zealand Experience.
Int J Neonatal Screen
; 8(2)2022 May 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35645287
10.
Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand.
Int J Neonatal Screen
; 8(4)2022 Oct 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36278626
11.
Birth Weight- or Gestational Age-adjusted Second-tier LCMSMS Cutoffs Improve Newborn Screening for CAH in New Zealand.
J Clin Endocrinol Metab
; 106(9): e3390-e3399, 2021 08 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34058748
12.
Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand.
Int J Neonatal Screen
; 6(1): 6, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33073005
13.
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.
JIMD Rep
; 35: 53-58, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27928776
14.
Fasting nonesterified fatty acid profiles in childhood and their relationship with adiposity, insulin sensitivity, and lipid levels.
Pediatrics
; 120(6): e1426-33, 2007 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18055661
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