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Open AccessEvaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims...
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Article
Influence of implementing a protocol for an intravenously administered ammonia scavenger on the management of acute hyperammonemia in a pediatric intensive care unit
The purpose of the study was to evaluate the influence of establishing a protocol for the use of combined sodium benzoate and sodium phenylacetate (SBSP) (Ammonul®) to treat acute hyperammonemia. This was a re...
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Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
Introduction: Nearly all children in Canada with an inherited metabolic disease (IMD) are treated at one of the country’s Hereditary Metabolic Disease Treatment Centres. We sought to understand the...
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Article
Ketone body metabolism and its defects
Acetoacetate (AcAc) and 3-hydroxybutyrate (3HB), the two main ketone bodies of humans, are important vectors of energy transport from the liver to extrahepatic tissues, especially during fasting, when glucose ...
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Article
Open AccessRecommendations for the management of tyrosinaemia type 1
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In ...
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Article
Development and characterization of microsatellite loci for lotus (Nelumbo nucifera)
This paper reports the development of microsatellite primers for Nelumbo nucifera Gaerten. By screening genomic libraries enriched with 10 kinds of probes, Seventeen polymorphic loci were isolated and primers wer...
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Article
The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis
The mechanisms that control blood vessel formation are incompletely understood. Sylvain Chemtob and his colleagues now find that blood vessel formation in mouse and rat retinas is controlled by succinate gener...
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Article
Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model
Maple syrup urine disease (MSUD, MIM 248600) can be complicated by metabolic crises necessitating extracorporeal removal therapy (ECRT). Since leucine levels are usually not immediately available during therap...
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Article
Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus
We searched for DNA polymorphisms in seven amplified fragments of the dystrophin gene. Three fragments exhibited variable mobilities during nondenaturing strand-separating gel electrophoresis (SSGE). These var...
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Article
Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities
ABSTRACT: Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with “hepatic” and one with “muscular” symptoms. We studied CPT activity and long-chain fatty ac...
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Article
INCONTINENTIA PIGMENTI (IP): LINKAGE ANALYSIS OF A KINDRED USING MULTIPLE Xp CENOMIC MARKERS
IP (in McK 30830) is an inherited highly pleomorphic disease associated with central nervous system disorders in 30% of cases. It is transmitted in an X-linked dominant fashion with prenatal lethality in affec...
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Article
ORNITHINE AMINOTRANSFERASE (OAT): EVIDENCE FOR A DISPERSED GENE FAMILY WITH MEMBER(S) LOCALIZED TO Xp11.1 – Xp21.1
OAT is a homotetrameric, mitochondrial matrix enzyme deficient in the autosomal recessive retinal degeneration, gyrate atrophy of the choroid and retina. We have cloned and sequenced a near full length human O...
