« Previous
Next »
Seminars in Pediatric Neurology
Volume 15, Issue 3
, Pages 110-116
, September 2008
A Review of Newborn Screening in the Era of Tandem Mass Spectrometry: What's New for the Pediatric Neurologist?
References
- . Patient advocacy in newborn screening: Continuities and discontinuities. Am J Med Genet C Semin Med Genet. 2008;148:8–14
- Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis. 1990;13:321–324
- . Newborn screening: Toward a uniform screening panel and system–executive summary. Pediatrics. 2006;117:S296–S307
- National Newborn Screening Status Report, 2008. http://genes-r-us.uthscsa.edu/nbsdisorders.htmAccessed March 1, 2008
- . Newborn screening expands: Recommendations for pediatricians and medical homes—Implications for the system. Pediatrics. 2008;121:192–217
- . Long-term correction of urea cycle disorders. J Pediatr. 2001;138(suppl):S62–S71
- . Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation. Eur J Pediatr. 2003;162:410–416
- . The organic acidemias: An overview. http://www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=hMo4g4tq34Ndv&gry=&fcn=y&fw=rblh&filename=/profiles/mma/index.htmlAccessed March 1, 2008
- Defects in activation and transport of fatty acids. J Inherit Metab Dis. 1999;22:428–441
- . Mitochondrial beta-oxidation. Eur J Biochem. 2004;271:462–469
- Short-chain Acyl-CoA dehydrogenase deficiency: Studies in a large family adding to the complexity of the disorder. Pediatrics. 2003;112:1152–1155
- . Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report. J Inherit Metab Dis. 2008;Jan 22 [Epub ahead of print]
- . Brain magnetic resonance imaging in tyrosinemia. Acta Radiol. 2005;46:618–620
- . http//www.oregon.gov/DHS/ph/nbs/expand.shtmlAccessed March 1, 2008
- Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn Reson Med. 2007;58:1145–1156
- Magnetic resonance spectroscopy in adult-onset citrullinemia: Elevated glutamine levels in comatose patients. Arch Neurol. 2007;64:1034–1037
- . Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet. 2006;142:113–120
- Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency. Dev Med Child Neurol. 1997;39:267–269
- Cranial MR spectroscopy of tetrahydrobiopterin deficiency. AJNR Am J Neuroradiol. 2002;23:1055–1058
- . www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250850Accessed March 1, 2008
- MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropedatrics. 2005;36:366–372
- . Late onset of distinct neurologic syndromes in galactosemic siblings. Neurology. 1989;39:741–742
- . Early diagnosis of inherited metabolic disorders towards improving outcome: The controversial issue of galactosaemia. Eur J Pediatr. 2003;162(suppl 1):S50–S53
- Magnetic resonance imaging of brain and the neuromotor disorder in endemic cretinism. Ann Neurol. 1993;34:91–94
- . Congenital hypothyroidism clinical aspects and late consequences. Pediatr Endocrinol Rev. 2003;1(suppl 2):185–190
- Hearing loss in congenital hypothalamic hypothyroidism: A wide therapeutic window. Hear Res. 2002;172:87–91
- Laminar cortical necrosis in adrenal crisis: Sequential changes on MRI. Brain Dev. 2008;30:77–81
- NIH conference (Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency). Ann Intern Med. 2002;136:320–334
- Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1. J Clin Endocrinol Metab. 2000;85:4060–4068
- . Therapy insight: metabolic and endocrine disorders in sickle cell disease. Nat Clin Pract Endocrinol Metab. 2008;4:102–109
- . Psychological problems and quality of life in children with thalassemia. Indian J Pediatr. 2007;74:727–730
- . Sensorineural hearing loss with brainstem auditory evoked responses changes in homozygote and heterozygote sickle cell patients in Guadeloupe (France). J Laryngol Otol. 2006;120:627–630
- . Peripheral neuropathy in thalassaemia. Ann Saudi Med. 2006;26:358–363
- Ocular findings among thalassemia patients. Am J Ophthalmol. 2006;142:704–705
PII: S1071-9091(08)00046-6
doi: 10.1016/j.spen.2008.05.003
© 2008 Elsevier Inc. All rights reserved.
« Previous
Next »
Seminars in Pediatric Neurology
Volume 15, Issue 3
, Pages 110-116
, September 2008
