Results 101 to 110 of about 1,764 (178)
PLoS ONE, 2018 In vertebrates, the initial step in heme biosynthesis is the production of 5-aminolevulinic acid (ALA) by ALA synthase (ALAS). ALA formation is believed to be the rate-limiting step for cellular heme production.
Shinichi Saitoh +11 more
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Point mutations in the Murine Fah gene : animal models for the human genetic disorder hereditary tyrosinemia type 1 [PDF]
, 1997 Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease, associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that cause disruption of tyrosine catabolism.
Aponte, Jennifer Lynn
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Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study [PDF]
, 2021 Spada, Marco
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Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]
, 2018 Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
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Multi-photon fluorescence-lifetime imaging of a genetically-encoded heme sensor [PDF]
Genetically-encoded fluorescence-based sensors have emerged as an essential tool for measuring the abundance of heme, revealing its trafficking pathways, and probing its signalling and regulatory role in cells.
Basran, Jaswir +5 more
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LABRAD : Vol 45, Issue 1 - February 2019 [PDF]
, 2019 Cardiac Manifestation of Inherited Metabolic Disorders Utility of Plasma Homocysteine in Identifying Inherited Metabolic Disorders (IMDs) Chediak-Higashi Syndrome, an Inherited Disorder in Phagocytic Function Radiology-Pathology Correlation Rare Diseases
Aga Khan University Hospital, Karachi
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Haem Biosynthesis in Isolated Human Erythroblasts [PDF]
, 1990 Hepatic haem biosynthesis has been well characterised. The first enzyme of the haem biosynthetic pathway, 5-aminolaevulinic acid (ALA) synthase, is rate-limiting and under negative feedback control by haem.
Houston, Tracey
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Tyrosinemia type 1: A case report [PDF]
Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumarylacetoacetate hydrolase. It hasan autosomal recessive pattern of inheritance.
Banu, Nasima +2 more
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Evaluation of different deoxyribonucleic acid (DNA) extraction methods using dried blood spot for early infant diagnosis of HIV1 in Sub-Saharan Africa [PDF]
, 2012 Armel, PM +10 more
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ObjectivesThe goal of this study was to include the quantitation of hexacosanoyl lysophosphatidylcholine, a biomarker for X-linked adrenoleukodystrophy and other peroxisomal disorders, in the routine extraction and analysis procedure used to quantitate ...
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