B. H. Robinson

Publication List Details

Period

1986 - 2006

Number

101

Co-Authors

CCA transport in soil from treated-timber posts: pattern dynamics from the local to regional scale (2006)

Clothier, B. E., Green, S. R., Vogeler, I., Greven, M. M., Agnew, R., Van Den Dijssel, C. W., ...

Winegrape growing in many parts of the world, including Marlborough, New Zealand, uses treated-timber posts to act as supports for the grapevine's canopy. At a density of 580 posts per hectare, the...

CCA transport in soil from treated-timber posts: pattern dynamics from the local to regional scale (2006)

Clothier, B. E., Green, S. R., Vogeler, I., Greven, M. M., Agnew, R., Van Den Dijssel, C. W., ...

Winegrape growing in many parts of the world, including Marlborough, New Zealand, uses treated-timber posts to act as supports for the grapevine's canopy. At a density of 580 posts per hectare, the...

CCA transport in soil from treated-timber posts: pattern dynamics from the local to regional scale (2006)

B. E. Clothier, S. R. Green, I. Vogeler, M. M. Greven, R. Agnew, ...

Winegrape growing in many parts of the world, including Marlborough, New Zealand, uses treated-timber posts to act as supports for the grapevine's canopy. At a density of 580 posts per hectare,...

Computational identification of human mitochondrial proteins based on homology to yeast mitochondrially targeted proteins (2005)

Cameron, J. M., Hurd, T., Robinson, B. H.

Motivation: Patients with defects of the mitochondrial respiratory chain due to mutations in nuclear genes are often undiagnosable due to the lack of information about the role of these genes. We...

Computational identification of human mitochondrial proteins based on homology to yeast mitochondrially-targeted proteins (2005)

Cameron, J. M., Hurd, T., Robinson, B. H.

Motivation: Patients with defects of the mitochondrial respiratory chain due to mutations in nuclear genes are often undiagnosable due to the lack of information about the role of these genes. We...

Soil Amendments Affecting Nickel and Cobalt Uptake by Berkheya coddii: Potential Use for Phytomining and Phytoremediation (1999)

ROBINSON, B. H., BROOKS, R. R., CLOTHIER, B. E.

Plants with inordinately high concentrations of heavy metals (‘hyperaccumulators’) can be used for phytoremediation (removal of contaminants from soils) or phytomining (growing a crop of plants...

Interparticle forces from SANS measurements of frozen dispersions (1998)

Steytler, D C, Robinson, B H, Eastoe, J, MacDonald, I

in Micelles, microemulsions and monolayers, Ed D O Shah (Marcel Dekker) p363 (1998)

Structure of microemulsion-based organo-gels (1990)

Atkinson, PJ, Holland, SJ, Robinson, B H, Clark, DC, Heenan, R K, Howe, AM

in 'The Structure, Dynamics and Equilibrium Properties of Colloidal Systems', eds D M Bloor and E Wyn-Jones, Kluwer Academic Publishers, p303-308 (1990)

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Robinson, B H, MacKay, N, Petrova-Benedict, R, Ozalp, I, Coskun, T, Stacpoole, P W

Three patients with chronic lacticacidemia and deficiency of the pyruvate dehydrogenase complex demonstrated in cultured skin fibroblasts showed abnormalities on Western blotting with anti-pyruvate...

15N- and 2H-substituted maleimide spin labels: Improved sensitivity and resolution for biological EPR studies

Beth, A. H., Venkataramu, S. D., Balasubramanian, K., Dalton, L. R., Robinson, B. H., Pearson, D. E., ...

The resolution and sensitivity of electron paramagnetic resonance (EPR) and saturation transfer EPR (ST-EPR) for biological applications are greatly improved by deuteration and substitution of 15N...

Structural and motional changes in glyceraldehyde-3-phosphate dehydrogenase upon binding to the band-3 protein of the erythrocyte membrane examined with [15N,2H]maleimide spin label and electron paramagnetic resonance.

Beth, A H, Balasubramanian, K, Wilder, R T, Venkataramu, S D, Robinson, B H, Dalton, L R, ...

Binding of the glycolytic enzyme, glyceraldehyde-3-phosphate dehydrogenase [GAPDHase; D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating EC 1.2.1.12], to the cytoplasmic segment of...

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.

Robinson, B H, Ward, J, Goodyer, P, Baudet, A

The cultured skin fibroblasts from three patients with lacticacidemia were found to have low rates of 1-[14C]pyruvate oxidation in the face of normal pyruvate dehydrogenase activity. After incubation...

Effects of Palmitoyl CoA on Citrate and Malate Transport by Rat Liver Mitochondria

Halperin, M. L., Robinson, B. H., Fritz, I. B.

Palmitoyl CoA inhibited citrate transport from isolated rat liver mitochondria. Under conditions described, 50% inhibition was observed at about 6-8 nmol/mg of mitochondrial protein per ml. The...

Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.

Pitkanen, S, Robinson, B H

Mitochondria were isolated from skin fibroblast cultures derived from healthy individuals (controls) and from a group patients with complex I (NADH-CoQ reductase) deficiency of the mitochondrial...

Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency.

Luo, X, Pitkänen, S, Kassovska-Bratinova, S, Robinson, B H, Lehotay, D C

Previous studies suggest oxygen free radicals' involvement in the etiology of cardiomyopathy with cataracts. To investigate the role of free radicals in the pathogenesis of the cardiomyopathy with...

Transport of reduced nicotinamide–adenine dinucleotide into mitochondria of rat white adipose tissue

Robinson, B. H., Halperin, M. L.

Mitochondria from rat white adipose tissue were prepared, exhibiting good respiratory control and P/O ratios. They would not oxidize NADH unless NNN′N′-tetramethyl-p-phenylenediamine was added as...

The role of the cytoplasmic redox potential in the control of fatty acid synthesis from glucose, pyruvate and lactate in white adipose tissue

Halperin, M. L., Robinson, B. H.

The metabolism of lactate, pyruvate and glucose was studied in epididymal adipose tissue of starved, normally fed and starved–re-fed rats. Lactate conversion into fatty acid occurred at an...

Probing a novel potato lipoxygenase with dual positional specificity reveals primary determinants of substrate binding and requirements for a surface hydrophobic loop and has implications for the role of lipoxygenases in tubers.

Hughes, R K, West, S I, Hornostaj, A R, Lawson, D M, Fairhurst, S A, Sanchez, R O, ...

A new potato tuber lipoxygenase full-length cDNA sequence (lox1:St:2) has been isolated from potato tubers and used to express in Escherichia coli and characterize a novel recombinant lipoxygenase...

Using nitroxide spin labels. How to obtain T1e from continuous wave electron paramagnetic resonance spectra at all rotational rates.

Haas, D A, Mailer, C, Robinson, B H

Historically, the continuous wave electron paramagnetic resonance (CW-EPR) progressive saturation method has been used to obtain information on the spin-lattice relaxation time (T1e) and those...

Flexibility of duplex DNA on the submicrosecond timescale.

Okonogi, T M, Reese, A W, Alley, S C, Hopkins, P B, Robinson, B H

Using a site-specific, Electron Paramagnetic Resonance (EPR)-active spin probe that is more rigidly locked to the DNA than any previously reported, the internal dynamics of duplex DNAs in solution...

Sequence-dependent dynamics in duplex DNA.

Okonogi, T M, Alley, S C, Reese, A W, Hopkins, P B, Robinson, B H

The submicrosecond bending dynamics of duplex DNA were measured at a single site, using a site-specific electron paramagnetic resonance active spin probe. The observed dynamics are interpreted in...

Sequence-dependent dynamics of duplex DNA: the applicability of a dinucleotide model.

Okonogi, T M, Alley, S C, Reese, A W, Hopkins, P B, Robinson, B H

The short-time (submicrosecond) bending dynamics of duplex DNA were measured to determine the effect of sequence on dynamics. All measurements were obtained from a single site on duplex DNA, using a...

Simulation of double-stranded branch point migration.

Robinson, B H, Seeman, N C

A structural and dynamic model has been developed for the branch point formed when two DNA double helices exchange strands during genetic recombination. This model, which generalizes most previous...

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

Carbone, M A, MacKay, N, Ling, M, Cole, D E, Douglas, C, Rigat, B, ...

We characterized the pyruvate carboxylase (PC) gene by PCR amplification, subcloning, and sequencing. The coding region has 19 exons and 18 introns spanning approximately 16 kb of genomic DNA....

An analysis of the reflex systemic vasodilator response elicited by lung inflation in the dog

Daly, M. De Burgh, Robinson, B. H.

1. A maintained inflation of the lungs caused a reflex reduction in total systemic vascular resistance in anaesthetized dogs under conditions in which the systemic circulation was perfused at...

Cancer in patients receiving dialysis.

Kinlen, L J, Eastwood, J B, Kerr, D N, Moorhead, J F, Oliver, D O, Robinson, B H, ...

The incidence of cancer and related mortality was studied in 1651 patients from six dialysis centres in England over 10 years. The only type of cancer for which there was a significant excess was...

Results of 250 consecutive cadaver kidney transplants.

Hall, C L, Sansom, J R, Obeid, M, Blainey, J D, Robinson, B H, Mackintosh, P, ...

The results of 250 cadaver kidney transplants performed at this hospital between May 1968 and December 1974 were analysed. A functioning transplant was defined strictly as one that maintained the...

Agonal phase, ischaemic times, and renal vascular abnormalities and outcome of cadaver kidney transplants.

Hall, C L, Sansom, J R, Obeid, M, Dawson-Edwards, P, Robinson, B H, Barnes, A D, ...

A retrospective study of 250 cadaver kidney transplants was carried out to determine the effects of the agonal period, the warm and cold ischaemic times, and the use of kidneys with vascular...

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

Merante, F, Petrova-Benedict, R, MacKay, N, Mitchell, G, Lambert, M, Morin, C, ...

We report the results of biochemical and molecular investigations on a group of patients from the Saguenay-Lac-Saint-Jean region of Quebec who have an unusual form of cytochrome oxidase deficiency...

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Morin, C, Mitchell, G, Larochelle, J, Lambert, M, Ogier, H, Robinson, B H, ...

Thirty-four children with lactic acidosis and Leigh encephalopathy due to cytochrome C oxidase (COX) deficiency distributed in 28 families have recently been identified in northeastern Quebec,...

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Tatuch, Y, Christodoulou, J, Feigenbaum, A, Clarke, J T, Wherret, J, Smith, C, ...

A female infant showing lacticacidemia, hypotonia, and neurodegenerative disease died at 7 mo of age. Autopsy revealed lesions typical of Leigh disease, both in the basal ganglia and in the brain...

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

Chun, K, MacKay, N, Petrova-Benedict, R, Robinson, B H

A 20-bp deletion in the last exon of the pyruvate dehydrogenase (PDH) E1 alpha gene was found in a severely affected female patient diagnosed with PDH deficiency. PDH-complex activity in the...

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.

Robinson, B H, Oei, J, Saudubray, J M, Marsac, C, Bartlett, K, Quan, F, ...

Cultured skin fibroblasts from 16 patients with either French or American pyruvate carboxylase (PC) deficiency were examined for their ability to incorporate 3H-biotin into proteins. Cell extracts...

Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing.

Petrova-Benedict, R, Robinson, B H, Stacey, T E, Mistry, J, Chalmers, R A

A male infant, whose parents were first cousins, presented at 6 mo of age with hypotonia, microcephaly, and delayed development. He was found to have large amounts of fumaric and succinic acids...

Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.

Glerum, M, Robinson, B H, Spratt, C, Wilson, J, Patrick, D

Cultured skin fibroblasts from a child with fatal lacticacidemia displayed an abnormally high lactate:pyruvate ratio of 77:1, compared with control values of 22:1-27:1. When protease-treated isolated...

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Robinson, B H, Oei, J, Sherwood, W G, Applegarth, D, Wong, L, Haworth, J, ...

Eight cases of isolated human pyruvate carboxylase deficiency were examined from seven families. Although all patients presented with a chronic lacticacidemia, two particular patients presented with...

Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.

Robinson, B H, McKay, N, Goodyer, P, Lancaster, G

A small-for-gestational-age female infant born at term developed severe lactic acidosis and died on day 13 of life. Two previous sibs had also died of overwhelming lactic acidosis in the neonatal...

Whole-body in-vivo neutron activation analysis in assessing treatment of renal osteodystrophy with 1-alpha-hydroxycholecalciferol.

Naik, R B, Gosling, P, Price, C P, Robinson, B H, Dabek, J T, Heath, D A, ...

Four selected adults with different patterns of osteodystrophy receiving regular dialysis were treated with 1-alpha-hydroxycholecalciferol (1-alpha-OHD3) 0-5-2 mug/day for 10 to 12 months. In two...

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Robinson, B H, MacKay, N, Petrova-Benedict, R, Ozalp, I, Coskun, T, Stacpoole, P W

Three patients with chronic lacticacidemia and deficiency of the pyruvate dehydrogenase complex demonstrated in cultured skin fibroblasts showed abnormalities on Western blotting with anti-pyruvate...

15N- and 2H-substituted maleimide spin labels: Improved sensitivity and resolution for biological EPR studies

Beth, A. H., Venkataramu, S. D., Balasubramanian, K., Dalton, L. R., Robinson, B. H., Pearson, D. E., ...

The resolution and sensitivity of electron paramagnetic resonance (EPR) and saturation transfer EPR (ST-EPR) for biological applications are greatly improved by deuteration and substitution of 15N...

Structural and motional changes in glyceraldehyde-3-phosphate dehydrogenase upon binding to the band-3 protein of the erythrocyte membrane examined with [15N,2H]maleimide spin label and electron paramagnetic resonance.

Beth, A H, Balasubramanian, K, Wilder, R T, Venkataramu, S D, Robinson, B H, Dalton, L R, ...

Binding of the glycolytic enzyme, glyceraldehyde-3-phosphate dehydrogenase [GAPDHase; D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating EC 1.2.1.12], to the cytoplasmic segment of...

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.

Robinson, B H, Ward, J, Goodyer, P, Baudet, A

The cultured skin fibroblasts from three patients with lacticacidemia were found to have low rates of 1-[14C]pyruvate oxidation in the face of normal pyruvate dehydrogenase activity. After incubation...

Effects of Palmitoyl CoA on Citrate and Malate Transport by Rat Liver Mitochondria

Halperin, M. L., Robinson, B. H., Fritz, I. B.

Palmitoyl CoA inhibited citrate transport from isolated rat liver mitochondria. Under conditions described, 50% inhibition was observed at about 6-8 nmol/mg of mitochondrial protein per ml. The...

Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.

Pitkanen, S, Robinson, B H

Mitochondria were isolated from skin fibroblast cultures derived from healthy individuals (controls) and from a group patients with complex I (NADH-CoQ reductase) deficiency of the mitochondrial...

Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency.

Luo, X, Pitkänen, S, Kassovska-Bratinova, S, Robinson, B H, Lehotay, D C

Previous studies suggest oxygen free radicals' involvement in the etiology of cardiomyopathy with cataracts. To investigate the role of free radicals in the pathogenesis of the cardiomyopathy with...

Transport of reduced nicotinamide–adenine dinucleotide into mitochondria of rat white adipose tissue

Robinson, B. H., Halperin, M. L.

Mitochondria from rat white adipose tissue were prepared, exhibiting good respiratory control and P/O ratios. They would not oxidize NADH unless NNN′N′-tetramethyl-p-phenylenediamine was added as...

The role of the cytoplasmic redox potential in the control of fatty acid synthesis from glucose, pyruvate and lactate in white adipose tissue

Halperin, M. L., Robinson, B. H.

The metabolism of lactate, pyruvate and glucose was studied in epididymal adipose tissue of starved, normally fed and starved–re-fed rats. Lactate conversion into fatty acid occurred at an...

Probing a novel potato lipoxygenase with dual positional specificity reveals primary determinants of substrate binding and requirements for a surface hydrophobic loop and has implications for the role of lipoxygenases in tubers.

Hughes, R K, West, S I, Hornostaj, A R, Lawson, D M, Fairhurst, S A, Sanchez, R O, ...

A new potato tuber lipoxygenase full-length cDNA sequence (lox1:St:2) has been isolated from potato tubers and used to express in Escherichia coli and characterize a novel recombinant lipoxygenase...

Using nitroxide spin labels. How to obtain T1e from continuous wave electron paramagnetic resonance spectra at all rotational rates.

Haas, D A, Mailer, C, Robinson, B H

Historically, the continuous wave electron paramagnetic resonance (CW-EPR) progressive saturation method has been used to obtain information on the spin-lattice relaxation time (T1e) and those...

Flexibility of duplex DNA on the submicrosecond timescale.

Okonogi, T M, Reese, A W, Alley, S C, Hopkins, P B, Robinson, B H

Using a site-specific, Electron Paramagnetic Resonance (EPR)-active spin probe that is more rigidly locked to the DNA than any previously reported, the internal dynamics of duplex DNAs in solution...

Sequence-dependent dynamics in duplex DNA.

Okonogi, T M, Alley, S C, Reese, A W, Hopkins, P B, Robinson, B H

The submicrosecond bending dynamics of duplex DNA were measured at a single site, using a site-specific electron paramagnetic resonance active spin probe. The observed dynamics are interpreted in...

Sequence-dependent dynamics of duplex DNA: the applicability of a dinucleotide model.

Okonogi, T M, Alley, S C, Reese, A W, Hopkins, P B, Robinson, B H

The short-time (submicrosecond) bending dynamics of duplex DNA were measured to determine the effect of sequence on dynamics. All measurements were obtained from a single site on duplex DNA, using a...

Simulation of double-stranded branch point migration.

Robinson, B H, Seeman, N C

A structural and dynamic model has been developed for the branch point formed when two DNA double helices exchange strands during genetic recombination. This model, which generalizes most previous...

An analysis of the reflex systemic vasodilator response elicited by lung inflation in the dog

Daly, M. De Burgh, Robinson, B. H.

1. A maintained inflation of the lungs caused a reflex reduction in total systemic vascular resistance in anaesthetized dogs under conditions in which the systemic circulation was perfused at...

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

Carbone, M A, MacKay, N, Ling, M, Cole, D E, Douglas, C, Rigat, B, ...

We characterized the pyruvate carboxylase (PC) gene by PCR amplification, subcloning, and sequencing. The coding region has 19 exons and 18 introns spanning approximately 16 kb of genomic DNA....

Cancer in patients receiving dialysis.

Kinlen, L J, Eastwood, J B, Kerr, D N, Moorhead, J F, Oliver, D O, Robinson, B H, ...

The incidence of cancer and related mortality was studied in 1651 patients from six dialysis centres in England over 10 years. The only type of cancer for which there was a significant excess was...

Results of 250 consecutive cadaver kidney transplants.

Hall, C L, Sansom, J R, Obeid, M, Blainey, J D, Robinson, B H, Mackintosh, P, ...

The results of 250 cadaver kidney transplants performed at this hospital between May 1968 and December 1974 were analysed. A functioning transplant was defined strictly as one that maintained the...

Agonal phase, ischaemic times, and renal vascular abnormalities and outcome of cadaver kidney transplants.

Hall, C L, Sansom, J R, Obeid, M, Dawson-Edwards, P, Robinson, B H, Barnes, A D, ...

A retrospective study of 250 cadaver kidney transplants was carried out to determine the effects of the agonal period, the warm and cold ischaemic times, and the use of kidneys with vascular...

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

Merante, F, Petrova-Benedict, R, MacKay, N, Mitchell, G, Lambert, M, Morin, C, ...

We report the results of biochemical and molecular investigations on a group of patients from the Saguenay-Lac-Saint-Jean region of Quebec who have an unusual form of cytochrome oxidase deficiency...

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Morin, C, Mitchell, G, Larochelle, J, Lambert, M, Ogier, H, Robinson, B H, ...

Thirty-four children with lactic acidosis and Leigh encephalopathy due to cytochrome C oxidase (COX) deficiency distributed in 28 families have recently been identified in northeastern Quebec,...

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Tatuch, Y, Christodoulou, J, Feigenbaum, A, Clarke, J T, Wherret, J, Smith, C, ...

A female infant showing lacticacidemia, hypotonia, and neurodegenerative disease died at 7 mo of age. Autopsy revealed lesions typical of Leigh disease, both in the basal ganglia and in the brain...

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

Chun, K, MacKay, N, Petrova-Benedict, R, Robinson, B H

A 20-bp deletion in the last exon of the pyruvate dehydrogenase (PDH) E1 alpha gene was found in a severely affected female patient diagnosed with PDH deficiency. PDH-complex activity in the...

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.

Robinson, B H, Oei, J, Saudubray, J M, Marsac, C, Bartlett, K, Quan, F, ...

Cultured skin fibroblasts from 16 patients with either French or American pyruvate carboxylase (PC) deficiency were examined for their ability to incorporate 3H-biotin into proteins. Cell extracts...

Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing.

Petrova-Benedict, R, Robinson, B H, Stacey, T E, Mistry, J, Chalmers, R A

A male infant, whose parents were first cousins, presented at 6 mo of age with hypotonia, microcephaly, and delayed development. He was found to have large amounts of fumaric and succinic acids...

Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.

Glerum, M, Robinson, B H, Spratt, C, Wilson, J, Patrick, D

Cultured skin fibroblasts from a child with fatal lacticacidemia displayed an abnormally high lactate:pyruvate ratio of 77:1, compared with control values of 22:1-27:1. When protease-treated isolated...

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Robinson, B H, Oei, J, Sherwood, W G, Applegarth, D, Wong, L, Haworth, J, ...

Eight cases of isolated human pyruvate carboxylase deficiency were examined from seven families. Although all patients presented with a chronic lacticacidemia, two particular patients presented with...

Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.

Robinson, B H, McKay, N, Goodyer, P, Lancaster, G

A small-for-gestational-age female infant born at term developed severe lactic acidosis and died on day 13 of life. Two previous sibs had also died of overwhelming lactic acidosis in the neonatal...

Whole-body in-vivo neutron activation analysis in assessing treatment of renal osteodystrophy with 1-alpha-hydroxycholecalciferol.

Naik, R B, Gosling, P, Price, C P, Robinson, B H, Dabek, J T, Heath, D A, ...

Four selected adults with different patterns of osteodystrophy receiving regular dialysis were treated with 1-alpha-hydroxycholecalciferol (1-alpha-OHD3) 0-5-2 mug/day for 10 to 12 months. In two...

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Chun, K, MacKay, N, Petrova-Benedict, R, Federico, A, Fois, A, Cole, D E, ...

Human pyruvate dehydrogenase (PDH)-complex deficiency is an inborn error of metabolism that is extremely heterogeneous in its presentation and clinical course. In a study of 14 patients (7 females...

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

Merante, F., Tein, I., Benson, L., Robinson, B. H.

We report a unique heteroplasmic T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene in a multiplex family who manifested nonobstructive cardiomyopathy. The degree of mtDNA...

Lithium toxicity induced by triamterene-hydrochlorothiazide.

Mehta, B. R., Robinson, B. H.

Two patients on long-term lithium therapy for manic-depressive psychosis developed serious toxicity within days of being prescribed a combination of triamterene (50 mg) and hydrochlorothiazide (25...