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1 . Academic Journal
Pilot study of newborn screening for six lysosomal diseases in Brazil
저자
by
Kubaski, Francyne
;
Sousa, Ines
;
Amorim, Tatiana
;
Pereira, Danilo
;
Silva, Camilo
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023
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7 .
Biotinidase deficiency: A treatable neurometabolic disorder
저자
by
Devanapalli, Beena
;
Sze Hui Wong, Rachel
;
Lim, Natalie
;
Ian Andrews, P
;
Vijayan, Keshini
, et al.
소스
In
Brain and Development Case Reports
June 2024 2(2)
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation
저자
by
Huynh, Tony
;
Greaves, Ronda
;
Mawad, Nazha
;
Greed, Lawrence
;
Wotton, Tiffany
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 60(10):1551-1561
Full Text(De Gruyter)
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7 . Academic Journal
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.
저자
by
la Marca, Giancarlo
;
Carling, Rachel. S.
;
Moat, Stuart. J.
;
Yahyaoui, Raquel
;
Ranieri, Enzo
, et al.
소스
International Journal of Neonatal Screening (IJNS); Mar2023, Vol. 9 Issue 1, p15, 14p
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7 . Academic Journal
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories.
저자
by
Gelb, Michael H.
;
Basheeruddin, Khaja
;
Burlina, Alberto
;
Chen, Hsiao-Jan
;
Chien, Yin-Hsiu
, et al.
소스
International Journal of Neonatal Screening (IJNS); Dec2022, Vol. 8 Issue 4, p62, 15p
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7 . Academic Journal
Isolated autism is not an indication for Smith–Lemli–Opitz syndrome biochemical testing.
저자
by
Kaub, Peter A
;
Sharp, Peter C
;
Ranieri, Enzo
;
Fletcher, Janice M
.
소스
Journal of Paediatrics & Child Health
. Apr2022, Vol. 58 Issue 4, p630-635. 6p.
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6 . Academic Journal
Multiple acyl-coenzyme A dehydrogenase deficiency: Diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card
저자
by
Poplawski, Nicola K.
;
Ranieri, Enzo
;
Harrison, J.Rodney
;
Fletcher, Janice M.
.
소스
In
The Journal of Pediatrics
1999 134(6):764-766
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6 . Academic Journal
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study
저자
by
Polo, Giulia
;
Burlina, Alessandro P.
;
Ranieri, Enzo
;
Colucci, Francesca
;
Rubert, Laura
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 57(12):1863-1874
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7 . Periodical
Newborn screening (NBS) for spinal muscular atrophy: the 5-year New South Wales (NSW) experience of screening 549,000 babies
저자
by
Wotton, Tiffany
;
Kim, Won Tae
;
Junek, Rosie
;
Screening Programme, NSW Newborn
;
Curtin, Julie
, et al.
소스
Pathology; February 2024, Vol. 56 Issue: 1, Number 1 Supplement 1 pS98-S98, 1p
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7 . Academic Journal
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.
저자
by
Derrick-Roberts, Ainslie
;
Kaidonis, Xenia
;
Jackson, Matilda R.
;
Liaw, Wan Chin
;
Ding, XiaoDan
, et al.
소스
Molecular Genetics & Metabolism
. Sep2020, Vol. 131 Issue 1/2, p197-205. 9p.
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