Mojca Žerjav Tanšek

Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4–10

Heiko Krude, Heike Biebermann, Dirk Schnabel et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 308 citations

Nutrition, Metabolic Disorder, Human Growth +17

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Helen Michelakakis et al. · Human Mutation · 2012 · 71 citations

Next generation sequencing as a follow-up test in an expanded newborn screening programme

Andraž Šmon, Barbka Repič Lampret, Urh Grošelj et al. · Clinical Biochemistry · 2017 · 64 citations

Neonatology, Genetics, Genetic Epidemiology +17

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian et al. · Genetics in Medicine · 2022 · 61 citations · Full text

Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia

Urh Grošelj, Simona Murko, Mojca Žerjav Tanšek et al. · Clinical Biochemistry · 2014 · 56 citations

Clinical Management, Tyrosine Monitoring—implications, Urology +11