Works matching IS 0340-6199 AND VI 160 AND IP 5 AND DT 2001

Results: 18

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Published in:

2001

By:

Dudesek, Ales;
Röschinger, Wulf;
Muntau, Ania C.;
Seidel, Jörg;
Leupold, Dorothea;
Thöny, Beat;
Blau, Nenad;
Dudesek, A;
Röschinger, W;
Muntau, A C;
Seidel, J;
Leupold, D;
Thöny, B;
Blau, N

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:

Möslinger, Dorothea;
Stöckler-Ipsiroglu, Sylvia;
Scheibenreiter, Susanne;
Tiefenthaler, Monika;
Mühl, Adolf;
Seidl, Rainer;
Strobl, Wolfgang;
Plecko, Barbara;
Suormala, Terttu;
Baumgartner, E. Regula;
Möslinger, D;
Stöckler-Ipsiroglu, S;
Scheibenreiter, S;
Tiefenthaler, M;
Mühl, A;
Seidl, R;
Strobl, W;
Plecko, B;
Suormala, T;
Baumgartner, E R

Publication type:

journal article

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

Published in:

2001

By:

Rapp, Boris;
Häberle, Johannes;
Linnebank, Michael;
Wermuth, Benedicht;
Marquardt, Thorsten;
Harms, Erik;
Koch, Hans Georg;
Rapp, B;
Häberle, J;
Linnebank, M;
Wermuth, B;
Marquardt, T;
Harms, E;
Koch, H G

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:

Calvani Jr, M.;
Parisi, P.;
Guaitolini, C.;
Parisi, G.;
Paolone, G.;
Calvani, M Jr

Publication type:

journal article

Severe reversible renal failure due to naproxen-associated acute interstitial nephritis.

Published in:

2001

By:

Becker-Cohen, Rachel;
Frishberg, Yaacov;
Becker-Cohen, R;
Frishberg, Y

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:

Zankl, Andreas;
Addor, Marie-Claude;
Cousin, Pascal;
Gaide, Anne-Claude;
Gudinchet, Francois;
Schorderet, Daniel F.;
Zankl, A;
Addor, M C;
Cousin, P;
Gaide, A C;
Gudinchet, F;
Schorderet, D F

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:

Manzke, Hermann;
Stadlober, Ernst;
Schellauf, Heinz-Peter;
Manzke, H;
Stadlober, E;
Schellauf, H P

Publication type:

journal article

Two hyperandrogenic adolescent girls with congenital portosystemic shunt.

Published in:

2001

By:

Satoh, Mari;
Yokoya, Susumu;
Hachiya, Yuriko;
Hachiya, Masahiko;
Fujisawa, Tomoo;
Hoshino, Kyoko;
Saji, Tsutomu;
Satoh, M;
Yokoya, S;
Hachiya, Y;
Hachiya, M;
Fujisawa, T;
Hoshino, K;
Saji, T

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:

Nelhans, Nicholas D.;
Thorburn, Kentigern;
Baines, Paul B.;
Nelhans, N D;
Thorburn, K;
Baines, P B

Publication type:

Letter

Successful treatment of phenylketonuria with tetrahydrobiopterin.

Published in:

2001

By:

Trefz, Friedrich K.;
Aulela-Scholz, Christa;
Blau, Nenad;
Trefz, F K;
Aulela-Scholz, C;
Blau, N

Publication type:

Letter

Bartonella henselae bacteraemia in patients with cat scratch disease.

Published in:

2001

By:

Tsukahara, Masato;
Iino, Hidechika;
Ishida, Chizuru;
Murakami, Kyoko;
Tsuneoka, Hidehiro;
Uchida, Masashi;
Tsukahara, M;
Iino, H;
Ishida, C;
Murakami, K;
Tsuneoka, H;
Uchida, M

Publication type:

commentary

Reference data for 4- and 5-year-old-children on the Balance Master: values and clinical feasibility.

Published in:

2001

By:

Cambier, Dirk;
Cools, Ann;
Danneels, Lieven;
Witvrouw, Erik;
Cambier, D;
Cools, A;
Danneels, L;
Witvrouw, E

Publication type:

Letter

Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany).

Published in:

2001

By:

Sander, Stefanie;
Janzen, Nils;
Janetzky, Bernd;
Scholl, Sabine;
Steuerwald, Ulrike;
Schäfer, Jochen;
Sander, Johannes;
Sander, S;
Janzen, N;
Janetzky, B;
Scholl, S;
Steuerwald, U;
Schäfer, J;
Sander, J

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:

De Curtis, Mario;
Pieltain, Catherine;
Studzinski, Frédéric;
Moureau, Vanessa;
Gérard, Paul;
Rigo, Jacques;
De Curtis, M;
Pieltain, C;
Studzinski, F;
Moureau, V;
Gérard, P;
Rigo, J

Publication type:

Letter

Transient renal tubular acidosis in a neonate following transplacental acetazolamide.

Published in:

2001

By:

Ozawa, Hidemi;
Azuma, Eiichi;
Shindo, Keiji;
Higashigawa, Masamune;
Mukouhara, Rika;
Komada, Yoshihiro;
Ozawa, H;
Azuma, E;
Shindo, K;
Higashigawa, M;
Mukouhara, R;
Komada, Y

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