6 Einträge gefunden

1. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

   1. Pennisi, Alessandra
   2. Maranda, Bruno
   3. Benoist, Jean-François
   4. Baudouin, Véronique
   5. Rigal, Odile
   6. Pichard, Samia
   7. Santer, René

   2020 - Forschungsinformationssystem des UKE
2. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

   1. Wasserstein, Melissa
   2. Dionisi-Vici, Carlo
   3. Giugliani, Roberto
   4. Hwu, Wuh-Liang
   5. Lidove, Olivier
   6. Lukacs, Zoltan
   7. Mengel, Eugen

   2019 - Forschungsinformationssystem des UKE
3. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

   1. McGovern, Margaret M
   2. Dionisi-Vici, Carlo
   3. Giugliani, Roberto
   4. Hwu, Paul
   5. Lidove, Olivier
   6. Lukacs, Zoltan
   7. Eugen Mengel, Karl

   2017 - Forschungsinformationssystem des UKE
4. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

   1. Kölker, Stefan
   2. Valayannopoulos, Vassili
   3. Burlina, Alberto B
   4. Sykut-Cegielska, Jolanta
   5. Wijburg, Frits A
   6. Teles, Elisa Leão
   7. Zeman, Jiri

   2015 - Forschungsinformationssystem des UKE
5. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

   1. Kölker, Stefan
   2. Cazorla, Angeles Garcia
   3. Valayannopoulos, Vassili
   4. Lund, Allan M
   5. Burlina, Alberto B
   6. Sykut-Cegielska, Jolanta
   7. Wijburg, Frits A

   2015 - Forschungsinformationssystem des UKE
6. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

   1. Carrozzo, Rosalba
   2. Dionisi-Vici, Carlo
   3. Steuerwald, Ulrike
   4. Lucioli, Simona
   5. Deodato, Federica
   6. Sivia, Di Giandomenico
   7. Bertini, Enrico

   2007 - Forschungsinformationssystem des UKE