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1.  Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy 
Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12 years. Left ventricular hypertrophy, with averaged z-scores ranging from 1.6–1.9 SD greater than normal, was present for ages both <12 and ≥12 years. After 96 weeks of ERT, ventricular septal hypertrophy regressed in those <12 years. For those ≥12 years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long-term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12 years of age.
doi:10.1007/s10545-012-9481-2
PMCID: PMC3590402  PMID: 22669363
2.  A terminal deletion of 11q. 
Journal of Medical Genetics  1992;29(7):511-512.
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PMCID: PMC1016034  PMID: 1640436
3.  Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders. 
Archives of Disease in Childhood  1990;65(9):962-963.
Eighteen patients with various mucopolysaccharidoses or mucolipidosis III were studied electrophysiologically to determine the presence or absence of carpal tunnel syndrome. In 17 patients this was clearly demonstrated, the only exception being a boy with mucopolysaccharidosis II, age 6 months at testing. All patients had a remarkable lack of symptoms. Carpal tunnel syndrome is a very common complication of the mucopolysaccharidoses and mucolipidosis III and should be actively looked for in affected patients. Early diagnosis and treatment offer the best chance of a good response to surgery.
PMCID: PMC1792093  PMID: 2121106
4.  Absence of acidosis in the initial presentation of propionic acidaemia. 
The clinical presentation and results of the initial biochemical and haematological investigations in 11 newborn term infants with propionic acidaemia are described. All patients had neurological symptoms. Only four had clinically important acidosis, but all had a raised blood ammonia. A diagnosis of propionic acidaemia should be considered in all newborn infants with unexplained neurological deterioration even in the absence of a metabolic acidosis.
PMCID: PMC2528453  PMID: 7796239
6.  Histidinaemia: a benign metabolic disorder. 
Archives of Disease in Childhood  1996;74(4):343-346.
Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients diagnosed by newborn screening in the north west of England. Between 1966 and 1990, 108 infants were diagnosed as having histidinaemia by a regional neonatal screening programme (incidence 1:11,083). A further five children were detected following diagnosis in a sibling. Of the 113, nine were lost to follow up. Infants diagnosed before 1981 (n = 47) were placed on a low histidine diet (225 mg/kg/d) for an average period of 21 months (SD 4.5). All patients were reviewed regularly, Griffiths developmental quotients (DQ) were assessed at 2 and 4 years, and WISC-R intelligence quotients (IQ) at 8, 12, and 18 years. IQ data were converted to standard deviation scores (IQ SDS) to account for increasing IQ norms with time. Neither DQ nor IQ correlated with plasma histidine at diagnosis or with the mean plasma histidine throughout life. Growth was normal in all patients. There was no apparent benefit from a low histidine diet in early childhood. In contrast to other studies, there was no excess of clinical symptoms. On the basis of these findings, histidinaemia is a benign metabolic disorder that does not require treatment.
PMCID: PMC1511463  PMID: 8669938
7.  Investigation of developmental delay. 
Archives of Disease in Childhood  1995;72(5):460-465.
PMCID: PMC1511114  PMID: 7542440
8.  The Inherited Metabolic Diseases 
Archives of Disease in Childhood  1994;71(4):388-389.
PMCID: PMC1030035  PMID: 21032835
9.  Management of mucopolysaccharidosis type III. 
Archives of Disease in Childhood  1993;69(3):403-406.
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PMCID: PMC1029535  PMID: 8215557
12.  No sensory neuropathy during pyridoxine treatment in homocystinuria. 
Archives of Disease in Childhood  1991;66(9):1081-1082.
Seventeen patients with cystathionine synthase deficiency homocystinuria were examined clinically and neurophysiologically for evidence of sensory neuropathy. All had received high dose pyridoxine (vitamin B-6) for many years. Absence of neurological disturbance in all cases suggests long term treatment with pyridoxine in the dosages used in homocystinuric patients is not harmful.
PMCID: PMC1793039  PMID: 1929522
13.  Antenatal diagnosis of inborn errors of metabolism. 
Archives of Disease in Childhood  1991;66(7 Spec No):816-822.
PMCID: PMC1590222  PMID: 1863132
19.  Diagnosis and management of inborn errors of metabolism. 
Archives of Disease in Childhood  1989;64(10 Spec No):1410-1415.
PMCID: PMC1590098  PMID: 2686556

Results 1-19 (19)