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Observational prospective study to evaluate the efficacy of Vitamin K Intravenously on the coagulopathy in patients with peroxisomal biogenesis disorders (PBD)

Primary objective: To evaluate the effect of intravenous vitamin K therapy on the vitamin K dependent coagulopathy in patients with peroxisomal biogenesis disorders measured with APTT, PT, FV, FVII, fibrinogen, d-dimer, thrombocytes and PIVKA.…

Optimizing treatment and follow-up for acute porphyric patients.

(also see: C1. Protocol, page 12, paragraph 2)Primary Objective:Improving risk assessment of acute porphyric attacks and complications in patients with acute porphyria.Secondary Objectives: 1. Obtain and describe basic demographics and statistics,…

Prevalence Assessment of Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in Juvenile Idiopathic Arthritis Patients with low inflammatory markers

Primary objective:To determine the prevalence of unrecognized mucopolysaccharidosis (MPS) I (Hurler, Hurler-Scheie, or Scheie syndromes), II (Hunter syndrome), IVA (Morquio syndrome), and VI (Maroteaux-Lamy syndrome) patients among a population of…