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Volume 30, Number 2, April 2007

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Recent advances in newborn screening
pp. 129-133(5)
Author: Wilcken, B.

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
pp. 139-144(6)
Authors: Ohura, T.; Kobayashi, K.; Tazawa, Y.; Abukawa, D.; Sakamoto, O.; Tsuchiya, S.; Saheki, T.

Phenylketonuria: Dietary and therapeutic challenges
pp. 145-152(8)
Authors: Giovannini, M.; Verduci, E.; Salvatici, E.; Fiori, L.; Riva, E.

Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine
pp. 153-158(6)
Authors: Matalon, R.; Michals-Matalon, K.; Bhatia, G.; Burlina, A.; Burlina, A.; Braga, C.; Fiori, L.; Giovannini, M.; Grechanina, E.; Novikov, P.; Grady, J.; Tyring, S.; Guttler, F.

Glycogen storage disease types I and II: Treatment updates
pp. 159-164(6)
Authors: Koeberl, D.; Kishnani, P.; Chen, Y.

International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
pp. 165-174(10)
Authors: Montaño, A.; Tomatsu, S.; Gottesman, G.; Smith, M.; Orii, T.

Enzyme, cell and gene-based therapies for metachromatic leukodystrophy
pp. 175-183(9)
Authors: Sevin, C.; Aubourg, P.; Cartier, N.

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
pp. 184-192(9)
Authors: Eng, C.; Fletcher, J.; Wilcox, W.; Waldek, S.; Scott, C.; Sillence, D.; Breunig, F.; Charrow, J.; Germain, D.; Nicholls, K.; Banikazemi, M.

Molecular and clinical aspects of peroxisomal diseases
pp. 193-197(5)
Author: Shimozawa, N.

A practical approach to maternal phenylketonuria management
pp. 198-201(4)
Authors: Maillot, F.; Cook, P.; Lilburn, M.; Lee, P.

Peak bone mass in patients with phenylketonuria
pp. 202-208(7)
Authors: Modan-Moses, D.; Vered, I.; Schwartz, G.; Anikster, Y.; Abraham, S.; Segev, R.; Efrati, Ori

The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
pp. 209-216(8)
Authors: Leuzzi, V.; Tosetti, M.; Montanaro, D.; Carducci, C.; Artiola, C.; Carducci, C.; Antonozzi, I.; Burroni, M.; Carnevale, F.; Chiarotti, F.; Popolizio, T.; Giannatempo, G.; D’Alesio, V.; Scarabino, T.

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
pp. 248-255(8)
Authors: Christensen, M.; Duno, M.; Lund, A.; Skovby, F.; Christensen, E.

1H NMR spectra of methylcitric acid in urine
pp. 263-263(1)
Authors: Krawczyk, H.; Gradowska, W.

Social outcome in adults with maple syrup urine disease (MSUD)
pp. 264-264(1)
Authors: Simon, E.; Schwarz, M.; Wendel, U.

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome
pp. 265-265(1)
Authors: Zhang, Y.; Yang, Y.; Sun, F.; Cai, X.; Qian, N.; Yuan, Y.; Wang, Z.; Qi, Y.; Xiao, J.; Wang, X.; Zhang, Y.; Jiang, Y.; Qin, J.; Wu, X.

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation
pp. 266-266(1)
Authors: Spiegel, R.; Shaag, A.; Gutman, A.; Korman, S.; Saada, A.; Elpeleg, O.; Shalev, S.

Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis
pp. 267-267(1)
Authors: Quintana, E.; Gala, S.; García-Cazorla, A.; Montero, R.; Muñoz-Almagro, C.; Vilaseca, M.; Briones, P.; Artuch, R.

Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome
pp. 269-270(2)
Authors: Bzduch, V.; Behulova, D.; Kozak, L.

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