Search Results - "Dhondt, J L"

International database of tetrahydrobiopterin deficiencies by Blau, N., Barnes, I., Dhondt, J. L.

“…Summary Approximately 2% of newborns with hyperphenylalaninaemia are deficient in tetrahydrobiopterin. Selective screening must be performed in all instances…”
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Neonatal screening for cystic fibrosis: France rises to the challenge by Farriaux, J. P., Vidailhet, M., Briard, M. L., Belot, V., Dhondt, J. L.

“…This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF),…”
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L’avenir du dépistage néonatal by Dhondt, J.-L.

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Quality assurance and standardization: summary of the satellite meeting, Turku, Finland, 11-12 June 1999 by Webster, D, Dhondt, J-L, Hannon, WH, Loeber, G, Torresani, T

“…The Quality Assurance (QA) and Standardization satellite meeting addressed five major issues in newborn screening: (i) Pre‐ and post‐analytical phases are…”
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Prematurity and neonatal screening by Dhondt, J-L

“…Neonatal screening for metabolic and endocrine diseases has clear benefits for full-term infants by providing early diagnosis and treatment to prevent or limit…”
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Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15‐Years experience by Dhondt, J. ‐L.

“…Summary Tetrahydrobiopterin deficiency in hyperphenylalaninaemic babies has to be rapidly recognized since the disease requires a specific treatment. Based on…”
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Physical growth in patients with phenylketonuria by Dhondt, J. L., Largillière, C., Moreno, L., Farriaux, J. P.

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Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients by Larnaout, A, Belal, S, Miladi, N, Kaabachi, N, Mebazza, A, Dhondt, J L, Hentati, F

“…Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and…”
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Prélèvement capillaire ou veineux pour la réalisation du test de Guthrie ? by Dhondt, J.-L.

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Heel lance versus venepuncture in blood sampling for newborn screening by Dhondt, J-L

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Economic evaluation of cost‐benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism by Dhondt, J. ‐L., Farriaux, J. ‐P., Sailly, J. ‐C., Lebrun, T.

“…Summary A comparison between the cost of identification and care of patients with phenylketonuria (PKU) and congenital hypothyroidism (CH) and the expenditure…”
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First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17α‐hydroxyprogesterone in blood spots by Elvers, L. H., Loeber, J. G., Dhondt, J.‐L., Fukushi, M., Hannon, W. H., Torresani, T., Webster, D.

“…Summary Background Neonatal screening for congenital disorders like phenylketonuria (PKU), congenital hypothyroidism (CH) and congenital adrenal hyperplasia…”
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Reliability of immunoturbidimetric urine albumin determination for normal and moderately high values by Bezé, F, Forzy, G, Dhondt, J-L

“…The value of albuminuria determination is commonly accepted in the monitoring of renal function, particularly in diabetic patients. This may be achieved in…”
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Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia by Curtius, H C, Kuster, T, Matasovic, A, Blau, N, Dhondt, J L

“…Three unknown compounds present in the urine of a patient with mild hyperphenylalaninemia were identified to be L-erythro-7-iso-biopterin,…”
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First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17alpha-hydroxyprogesterone in blood spots by Elvers, L H, Loeber, J G, Dhondt, J-L, Fukushi, M, Hannon, W H, Torresani, T, Webster, D

“…Neonatal screening for congenital disorders like phenylketonuria (PKU), congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) is generally…”
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Clinical and EEG video‐polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone by Mikaeloff, Yann, Plouin, Perrine, Dhondt, Jean‐Louis, Ponsot, Gérard, Dulac, Olivier

“…ABSTRACT West syndrome is an epileptic encephalopathy which includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic…”
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Timely neonatal screening by Dhondt, J L, Farriaux, J P

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Preparation of the first European working standard for phenylalanine determination in dried blood spots by Dhondt, J L, Loeber, J, Elvers, L H, Paux, E

“…To develop a standard preparation for measurement of phenylalanine in blood spots in phenylketonuria against which manufacturers of kits for phenylalanine…”
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Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency by Dhondt, J. ‐L., Tilmont, P., Ringel, J., Farriaux, J. ‐P.

“…Summary Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency is a group of rare and severe diseases. Prenatal diagnosis of dihydropteridine reductase…”
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Unconjugated pteridines in bronchoalveolar lavage as indicators of alveolar macrophage activation by Dhondt, J L, Darras, A, Mulliez, P, Hayte, J M, Crinquette, J

“…Bronchoalveolar lavage (BAL) has shown great efficacy in clarifying the role of immune processes in many disorders of the lower respiratory tract. Following…”
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