Works matching IS 03406199 AND DT 2001 AND VI 160 AND IP 5
Results: 18
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic acid transport across the blood-brain barrier.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Severe reversible renal failure due to naproxen-associated acute interstitial nephritis.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Combined body plethysmographic, spirometric and flow volume reference values for male and female children aged 6 to 16 years obtained from "hospital normals".
- Published in:
- 2001
- By:
- Publication type:
- journal article
Two hyperandrogenic adolescent girls with congenital portosystemic shunt.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Neonatal streptococcal disease associated with infected breast milk.
- Published in:
- European Journal of Pediatrics, 2001, v. 160, n. 5, p. 313, doi. 10.1007/s004310000692
- Publication type:
- Article
Where are all the babies? Paediatric risk of mortality score in meningococcal disease.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Successful treatment of phenylketonuria with tetrahydrobiopterin.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Bartonella henselae bacteraemia in patients with cat scratch disease.
- Published in:
- 2001
- By:
- Publication type:
- commentary
Reference data for 4- and 5-year-old-children on the Balance Master: values and clinical feasibility.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany).
- Published in:
- 2001
- By:
- Publication type:
- Letter
Evaluation of weight gain composition during the first 2 months of life in breast- and formula-fed term infants using dual energy X-ray absorptiometry.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Transient renal tubular acidosis in a neonate following transplacental acetazolamide.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Symptoms associated with infant teething.
- Published in:
- European Journal of Pediatrics, 2001, v. 160, n. 5, p. A312, doi. 10.1007/PL00008434
- Publication type:
- Article
Temperature measured in the axilla and rectum.
- Published in:
- European Journal of Pediatrics, 2001, v. 160, n. 5, p. B312, doi. 10.1007/pl00022930
- Publication type:
- Article