<p>Plasma octanoyl-carnitine (C8:0) concentrations determined in dried blood spots during initial newborn screening and subsequent follow-up from patients carrying two confirmed <i>ACADM</i> mutations.</p
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that affects the nervous system, ...
Background: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder...
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) g...
Distribution of dried blood spot amino acids, acylcarnitines and succinylacetone concentrations in n...
The use of tandem mass spectrometry (MS-MS) in the analysis of filter paper blood spots from newborn...
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in n...
Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a defi...
Stored dried blood spots (DBS) can provide valuable samples for the retrospective diagnosis of inbor...
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14...
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14...
Objective The aim of this study was to determine whether an expanded newborn screening programme, wh...
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transamin...
deficiency (MIM 255120), free carnitine can be increased with no pathologic acylcarnitine species de...
The dataset was generated from analysis of acylcarnitines in the 17,121 dried blood spots using tand...
BACKGROUND: 3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in...
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that affects the nervous system, ...
Background: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder...
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) g...
Distribution of dried blood spot amino acids, acylcarnitines and succinylacetone concentrations in n...
The use of tandem mass spectrometry (MS-MS) in the analysis of filter paper blood spots from newborn...
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in n...
Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a defi...
Stored dried blood spots (DBS) can provide valuable samples for the retrospective diagnosis of inbor...
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14...
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14...
Objective The aim of this study was to determine whether an expanded newborn screening programme, wh...
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transamin...
deficiency (MIM 255120), free carnitine can be increased with no pathologic acylcarnitine species de...
The dataset was generated from analysis of acylcarnitines in the 17,121 dried blood spots using tand...
BACKGROUND: 3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in...
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that affects the nervous system, ...
Background: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder...
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) g...