Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
about
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsPostanalytical tools improve performance of newborn screening by tandem mass spectrometry.Genotype-phenotype correlation in primary carnitine deficiencyCarnitine Deficiency and Pregnancy.Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby.Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.Fatty Acid oxidation disorders in a chinese population in taiwan.Primary carnitine deficiency and cardiomyopathyExtended newborn screening: an update for the general paediatrician.Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.Carnitine transport and fatty acid oxidation.Birth prevalence of disorders detectable through newborn screening by race/ethnicity.Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.Functional and molecular studies in primary carnitine deficiency.Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
P2860
Q34581240-E7DAA278-BC5B-4888-A8BD-585848568F87Q34675169-44DA0BD5-467D-400B-B366-5188106BE504Q35618853-9C5C1F64-26D0-4047-9AD0-CE0C1F5D559EQ35729830-68432C67-1942-4B59-9295-BA2D2CE46EE2Q35778378-9CACDFA1-D89E-4564-A2BA-74FD8F1C666EQ35795411-A711F3AF-5CCA-4BE5-8ECC-B6B7DEA6C5D5Q36392407-1A15F0E2-7DF7-4465-9E51-F78AB6C6E3F8Q36433288-4621698D-4AFB-447E-99B9-AF8DDF9B28A5Q37127631-B17485E6-417B-49D1-8DC2-781AFC5B1948Q37420074-37D81232-E618-4C3E-A118-A53D660CDB70Q37948082-7EF077FA-291F-47FC-B52D-C37B70FE8C05Q39432351-4C0251B2-31AF-49FE-BC9C-5A7A09269DEFQ41590945-C187CD53-42EE-4651-BF2A-898B238052BAQ41633875-CF21F598-63CD-49E2-BC40-247726EBFC02Q44587834-5768454A-306A-42B5-B37A-45DA58F2FC54Q44929080-7B745188-C4E0-41D2-B8DE-FA6D62D53613Q46568793-9C7F5424-5805-4A51-8780-D9147D052D37Q47713614-E628C16E-1F45-4A60-963D-F6E4ABD7CD05Q54763126-2D45E0DC-741E-4321-AF9D-8BFC6854A9B2Q59313491-8FC6E74C-407B-43B1-B598-63BE8709AECA
P2860
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Diagnoses of newborns and moth ...... cts through newborn screening.
@ast
Diagnoses of newborns and moth ...... cts through newborn screening.
@en
Diagnoses of newborns and moth ...... cts through newborn screening.
@nl
type
label
Diagnoses of newborns and moth ...... cts through newborn screening.
@ast
Diagnoses of newborns and moth ...... cts through newborn screening.
@en
Diagnoses of newborns and moth ...... cts through newborn screening.
@nl
prefLabel
Diagnoses of newborns and moth ...... cts through newborn screening.
@ast
Diagnoses of newborns and moth ...... cts through newborn screening.
@en
Diagnoses of newborns and moth ...... cts through newborn screening.
@nl
P2093
P50
P1476
Diagnoses of newborns and moth ...... cts through newborn screening.
@en
P2093
Ai-Chu Huang
Pao-Chin Chiu
Sho-Juan Lin
P356
10.1016/J.YMGME.2009.12.015
P577
2009-12-28T00:00:00Z