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1 . Academic Journal
A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for Hypophosphatasia
저자
by
Saraff, Vrinda
;
Narayanan, Vidya K.
;
Lawson, Alexander J.
;
Shaw, Nicholas J.
;
Preece, Mary Anne
, et al.
소스
In
The Journal of Pediatrics
May 2016 172:181-186
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7 . Academic Journal
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
저자
by
Cantley, Nathan W. P.
;
Barski, Robert
;
Kemp, Helena
;
Hogg, Sarah L.
;
Wu, Hoi Yee Teresa
, et al.
소스
International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p2, 7p
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7 . Academic Journal
A case series of cerebral venous thrombosis as the first manifestation of homocystinuria.
저자
by
Ochoa-Ferraro, Antonio
;
Wanninayake, Subadra
;
Dawson, Charlotte
;
Gerrard, Adam
;
Preece, Mary Anne
, et al.
소스
European Stroke Journal; Dec2021, Vol. 6 Issue 4, p420-427, 8p
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7 . Academic Journal
Failure of national antenatal vitamin D supplementation programme puts dark skinned infants at highest risk: A newborn bloodspot screening study.
저자
by
Uday, Suma
;
Naseem, Sunia
;
Large, Jamie
;
Denmeade, Russell
;
Goddard, Philippa
, et al.
소스
Clinical Nutrition; May2021, Vol. 40 Issue 5, p3542-3551, 10p
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7 . Academic Journal
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
저자
by
MacDonald, Anita
;
Webster, Rachel
;
Whitlock, Matthew
;
Gerrard, Adam
;
Daly, Anne
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 31(3):297-304
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7 . Academic Journal
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.
저자
by
Ferdinandusse, Sacha
;
Denis, Simone
;
van Roermund, Carlo W.T.
;
Preece, Mary Anne
;
Koster, Janet
, et al.
소스
BBA: Molecular Basis of Disease
. Mar2018, Vol. 1864 Issue 3, p952-958. 7p.
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7 . Academic Journal
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
저자
by
Santra, Saikat
;
Cameron, Jessie M.
;
Shyr, Casper
;
Zhang, Linhua
;
Drögemöller, Britt
, et al.
소스
Molecular Genetics & Metabolism
. May2016, Vol. 118 Issue 1, p21-27. 7p.
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7 . Academic Journal
Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1
저자
by
Yilmaz, Ozlem
;
Daly, Anne
;
Pinto, Alex
;
Ashmore, Catherine
;
Evans, Sharon
, et al.
소스
NUTRIENTS
; APR 2020, 12 4, p1148 16p.
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7 . Academic Journal
Outcome of children with hereditary tyrosinaemia following newborn screening
저자
by
McKiernan, P J
;
Preece, Mary Anne
;
Chakrapani, Anupam
.
소스
Archives of Disease in Childhood
. Aug 01, 2015 100(8):738-741
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5 . Academic Journal
The Micronutrient Status of Patients with Phenylketonuria on Dietary Treatment: An Ongoing Challenge
저자
by
Evans, Sharon
;
Daly, Anne
;
MacDonald, John
;
Preece, Mary Anne
;
Santra, Saikat
, et al.
소스
Annals of Nutrition and Metabolism
. Oct 01, 2014 65(1):42-48
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