Richard O. Jones

Follow-up of 89 Asymptomatic Patients With Adrenoleukodystrophy Treated With Lorenzo’s Oil

Hugo W. Moser, Gerald V. Raymond, Shou‐En Lu et al. · Archives of Neurology · 2005 · 242 citations

Medicine, Endocrinology, Pediatrics +16

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

Walter C. Hubbard, Ann B. Moser, Anita C. Liu et al. · Molecular Genetics and Metabolism · 2009 · 173 citations

Medicine, Endocrinology, Pediatrics +11

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Hyung-Lok Chung, Michael F. Wangler, Paul C. Marcogliese et al. · Neuron · 2020 · 163 citations · Full text

Life Sciences, Genetics, Neuroscience +8

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Sacha Ferdinandusse, Kim D. Falkenberg, Janet Koster et al. · Journal of Medical Genetics · 2016 · 120 citations · Full text

Life Sciences, Biochemistry, Genetics +17

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

Kelsey B. Law, Dana M. Bronte-Tinkew, Erminia Di Pietro et al. · Autophagy · 2017 · 116 citations · Full text

Life Sciences, Genetics, Molecular Biology +17