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Peroxisome biogenesis disorder 1B

MONDO:0011101

Also known as: peroxisome biogenesis disorder 1B, peroxisome biogenesis disorder 1B (NALD/IRD), peroxisome biogenesis disorder type 1B, PBD1B, Refsum disease, infantile, adrenoleukodystrophy, autosomal neonatal, infantile phytanic acid storage disease, peroxisome biogenesis disorder (NALD/Ird)

8 clinical trials for this condition and its sub-types, 1 tagged with Peroxisome biogenesis disorder 1B itself.

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Where it sits in the disease tree

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Part of

↑ Peroxisome biogenesis disorder due to PEX1 defect (1)

Including sub-types (8) Tagged with Peroxisome biogenesis disorder 1B (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC