Scientific Commons: B. G.

Journey Time Variability on a Congested Link (2006)

Addison,
J.D.,
Heydecker,
B.G.

Several models have been developed to estimate the changes in expected queue length in oversaturated conditions with time varying arrival and service rates. However, the variation of the standard...

Aeolianfluvial interaction: evidence for Late Quaternary channel change and wind-rift linear dune formation in the northwestern Simpson Desert, Australia (2006)

Hollands,
C.B.,
Nanson,
G.C.,
Jones,
B.G.,
...

Investigation of large-scale washover of a small barrier system on the southeast Australian coast using ground penetrating radar (2006)

Switzer,
A.D.,
Bristow,
C.S.,
Jones,
B.G.

A Institucionalização Dos Processos Folkcomunicacionais Nas Festas De Reis (2005)

FREITAS,
B.G

Trabalho apresentado no NP 17 - Folkcomunicação no XXVII Congresso Brasileiro de Ciências da Comunicação, Porto Alegre RS, 2004. A Folia de Reis é uma...

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics (2005)

Wopereis,
S.,
Morava,
T.,
Grunewald,
S.,
...

Based on our preliminary observation of abnormal glycosylation in a cutis laxa patient, nine cutis laxa, patients were analyzed for congenital defects of glycosylation (CDG). Isoelectric focusing of...

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder (2005)

Neville,
B.G.,
Parascandalo,
R.,
Farrugia,
R.,
...

This study presents the clinical findings on seven children from Malta (population 385 000). All of them had early motor delay and a significant degree of cognitive impairment. Diurnal variation of...

Psychopathology in children with epilepsy before and after temporal lobe resection (2005)

McLellan,
A.,
Davies,
S.,
Heyman,
I.,
...

The aim of this study was to establish the rate and spectrum of psychiatric disorder among children before and after temporal lobe surgery for epilepsy. Data were examined for associations between...

Developmental impairments following severe falciparum malaria in children (2005)

Carter,
J.A.,
Ross,
A.J.,
Neville,
B.G.,
...

OBJECTIVE: Neurological deficits are reported in children after cerebral malaria (CM) but little is known about the prevalence and characteristics of persisting neurocognitive consequences. The...

Issues in the development of cross-cultural assessments of speech and language for children (2005)

Carter,
J.A.,
Lees,
J.A.,
Murira,
G.M.,
...

Background: There is an increasing demand for the assessment of speech and language in clinical and research situations in countries where there are few assessment resources. Due to the nature of...

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) (2005)

Beesley,
C.E.,
Jackson,
M.,
Young,
E.P.,
...

Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). NAGLU is...

Risk factors for persisting neurological and cognitive impairments following cerebral malaria (2005)

Idro,
R.,
Carter,
J.A.,
Fegan,
G.,
...

OBJECTIVE: Persisting neurological and cognitive impairments are common after cerebral malaria. Although risk factors for gross deficits on discharge have been described, few studies have examined...

Impaired vision and the ability to take medications (2005)

Windham,
B.G.,
Griswold,
M.E.,
Fried,
L.P.,
...

OBJECTIVES: To assess relationships between vision (contrast sensitivity, stereopsis, visual acuity) and a performance-based measure of ability to implement new medications. DESIGN: Cross-sectional...

Recent trends in HIV and other STIs in the United Kingdom: data to the end of 2002 (2004)

Brown,
A.E.,
Sadler,
K.E.,
Tomkins,
S.E.,
...

Sexual health in the United Kingdom has deteriorated in recent years with further increases in HIV and other sexually transmitted infections (STIs) reported in 2002. This paper describes results from...

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) (2004)

Schollen,
E.,
Frank,
C.G.,
Keldermans,
L.,
...

Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence (2003)

Devlin,
A.M.,
Cross,
J.H.,
Harkness,
W.,
...

Hemispherectomy has been performed in the treatment of epilepsy in association with hemiplegia for over 50 years. However, the optimal timing of surgery with respect to age at presentation and the...

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx (2003)

Mills,
P.B.,
Mills,
K.,
Mian,
N.,
...

The majority of secreted or membrane-bound proteins are glycosylated. The glycans attached to glycoproteins can affect a range of physicochemical and biological properties of the glycoprotein and...

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene (2003)

Beesley,
C.E.,
Burke,
D.,
Jackson,
M.,
...

Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. It is caused by a deficiency of N-acetylglucosamine-6-sulphatase, which is one of the enzymes involved...

The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random (2003)

Mills,
K.,
Mills,
P.B.,
Clayton,
P.T.,
...

Conditions under which the glycosylation capacity of cells is limited provide an opportunity for studying the efficiency of site-specific glycosylation and the role of glycosylation in the maturation...

Virological suppression at 6 months is related to choice of initial regimen in antiretroviral-naive patients: a cohort study (2002)

Matthews,
G.V.,
Sabin,
C.A.,
Mandalia,
S.,
...

BACKGROUND: Guidelines recommend both protease inhibitor (PI)- and non-nucleoside reverse transcriptase inhibitor (NNRTI)-containing regimens for initial therapy in HIV-positive individuals whilst...

Correlation of single photon emission computed tomography with pathology and seizure outcome in children undergoing epilepsy surgery (2002)

Cross,
J.H.,
Hartley,
L.M.,
Harkness,
W.,
...

Correlation of SPECT with pathology and seizure outcome in children undergoing epilepsy surgery (2002)

Hartley,
L.M.,
Gordon,
I.,
Harkness,
W.,
...

SPECT can be used to image regional cerebral blood flow (rCBF) and has been shown to help localize the seizure focus in partial epilepsies as part of the presurgical evaluation. Few studies have...

CLN2- Classic late infantile NCL (2002)

Williams,
R.E.,
Gottlob,
I.,
Lake,
B.D.,
...

Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology (2001)

Mills,
K.,
Mills,
P.B.,
Clayton,
P.T.,
...

Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1- antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis (2001)

Mills,
P.B.,
Mills,
K.,
Johnson,
A.W.,
...

The state of protein glycosylation in terms of occupation of potential N-linked glycosylation sites (macroheterogeneity) and type of glycosylation at that site (microheterogeneity) is important when...

Are there useful biochemical markers of disease activity in lysosomal storage diseases? (2001)

Winchester,
B.G.

Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases (2001)

Estruch,
E.J.,
Hart,
S.L.,
Kinnon,
C.,
...

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi (2000)

Young,
E.P.,
Winchester,
B.G.,
Logan,
W.P.,
...

We report the exclusion of late infantile neuronal ceroid lipofuscinosis in a fetus by assay of tripeptidyl peptidase I activity and by mutational analysis in chorionic villi. This is the first...

A strategy for the identification of site-specific glycosylation in glycoproteins using MALDI TOF MS (2000)