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Next-generation sequencing based newborn screening and comparative analysis with MS/MS

2024 . Shen, Guosong | Li, Wenwen | Zhang, Yaqin | Chen, Lyuyan

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

2021 . Lotz-Havla, Amelie S. | Weiß, Katharina J. | Schiergens, Katharina A. | Brunet, Theresa | Kohlhase, Jürgen | Regenauer-Vandewiele, Stephanie | Maier, Esther

Impact of glycogen storage disease type I on adult daily life: a survey

2021 . Garbade, Sven F. | Ederer, Viviane | Burgard, Peter | Wendel, Udo | Spiekerkoetter, Ute | Haas, Dorothea | Grünert, Sarah Catharina

U-IMD: the first Unified European registry for inherited metabolic diseases

2021 . Opladen, Thomas | Gleich, Florian | Kozich, Viktor | Scarpa, Maurizio | Martinelli, Diego | Schaefer, Franz | Jeltsch, Kathrin | Juliá-Palacios, Natalia | García-Cazorla, Ángels | Dionisi-Vici, Carlo | Kölker, Stefan

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

2020 . Taday, Roman | Grüneberg, Marianne | DuChesne, Ingrid | Reunert, Janine | Marquardt, Thorsten

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

2020 . Hennermann, Julia B. | Guffon, Nathalie | Cattaneo, Federica | Ceravolo, Ferdinando | Borgwardt, Line | Lund, Allan M. | Gil-Campos, Mercedes | Tylki-Szymanska, Anna | Muschol, Nicole M.

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

2020 . Grünert, Sarah Catharina | Elling, Roland | Maag, Bärbel | Wortmann, Saskia B. | Derks, Terry G. J. | Hannibal, Luciana | Schumann, Anke | Rosenbaum-Fabian, Stefanie | Spiekerkoetter, Ute

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children

2020 . Vogt, Marius | Girschick, Hermann | Schweitzer, Tilmann | Benoit, Clemens | Holl-Wieden, Annette | Seefried, Lothar | Jakob, Franz | Hofmann, Christine