Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

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Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome

Nasrallah, F., Zidi, W., Feki, M., Kacem, S., Tebib, N., & Kaabachi, N. (2017) · Pediatrics & Neonatology · doi:10.1016/j.pedneo.2016.08.011 · Cited by 10 · see citing works

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner, M. W., Poretti, A., Benson, J. E., & Huisman, T. A. G. M. (2016) · Journal of Neuroimaging · doi:10.1111/jon.12413 · Cited by 7 · see citing works

Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency

Fazi, C., Lodi, L., Magi, L., Canessa, C., Giovannini, M., Pelosi, C., Pochiero, F., Procopio, E., Donati, M. A., Azzari, C., et al. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.852943 · Cited by 7 · see citing works

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

Gündüz, M., & Uzun, Ö. Ü. (2016) · Case Reports in Pediatrics · doi:10.1155/2016/5175709 · Cited by 6 · see citing works

Genetically Determined Neuropathies

Bilbao, J. M., & Schmidt, R. E. (2014) · Springer eBooks · doi:10.1007/978-3-319-07311-8_19 · Cited by 6 · see citing works

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder

Zaki, M. S., Issa, M. Y., Thomas, M. M., Elbendary, H. M., Rafat, K., Menabawy, N. M. A., Selim, L., Ismail, S. I., Abdel‐Salam, G. M. H., & Gleeson, J. G. (2020) · Neurological Sciences · doi:10.1007/s10072-020-04843-2 · Cited by 5 · see citing works

Neonate with classic Zellweger syndrome

Kashgari, A. A. (2019) · International Journal of Pediatrics and Adolescent Medicine · doi:10.1016/j.ijpam.2019.11.002 · Cited by 5 · see citing works

Recent Advances in NMR Studies of Lipids

Pikuła, S., Bandorowicz‐Pikuła, J., & Groves, P. D. (2015) · Annual reports on NMR spectroscopy · doi:10.1016/bs.arnmr.2014.12.005 · Cited by 5 · see citing works

The cycling peroxisomal targeting signal type 1 - receptor Pex5p: reaching the circle`s end with ubiquitin

(2014) · Receptors & Clinical Investigation · doi:10.14800/rci.69 · Cited by 4 · see citing works

Pseudo-neonatal Adrenoleukodystrophy

Arora, C., Padmanabha, H., Christopher, R., Mahale, R. R., Bhat, M. D., Arunachal, G., Shekhar, R., Mailankody, P., & Mathuranath, P. S. (2021) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_486_21 · Cited by 4 · see citing works

A Systematic Approach to the Differential Diagnosis of Encephalitis in Children

Dean, N. P., Carpenter, J. L., Campos, J. M., & DeBiasi, R. L. (2014) · Journal of the Pediatric Infectious Diseases Society · doi:10.1093/jpids/piu007 · Cited by 4 · see citing works

Maladies peroxysomales

Astudillo, L. M., Sabourdy, F., Touati, G., & Levade, T. (2016) · La Presse Médicale · doi:10.1016/j.lpm.2015.05.009 · Cited by 4 · see citing works

Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy

van der Knaap, M. S., Hamilton, E. M. C., & van Berge, L. (2014) · Brain · doi:10.1093/brain/awu135 · Cited by 4 · see citing works

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study

Khalilian, S., Fathi, M., Jamshidi, S., Madannejad, R., Sayad, A., Ghafouri‐Fard, S., & Miryounesi, M. (2025) · BMC Medical Genomics · doi:10.1186/s12920-025-02126-3 · Cited by 3 · see citing works

Overview of neuroimaging in primary mitochondrial disorders

Kandemirli, S. G., Al‐Dasuqi, K., Aslan, B., Goldstein, A. C., & Alves, C. (2025) · Pediatric Radiology · doi:10.1007/s00247-025-06172-y · Cited by 3 · see citing works

General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report

Yardımcı-Lokmanoğlu, B. N., Mutlu, A., & Livanelioğlu, A. (2020) · Physical & Occupational Therapy In Pediatrics · doi:10.1080/01942638.2020.1841870 · Cited by 3 · see citing works

Single Peroxisomal Enzyme and Transporter Deficiencies in Human Diseases and Mouse Models

Kunze, M., & Berger, J. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1788-0_8 · Cited by 3 · see citing works

Peroxisomes as emerging clinical targets in neuroinflammatory diseases

Roczkowsky, A., Rachubinski, R. A., Hobman, T. C., & Power, C. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1642590 · Cited by 2 · see citing works

Nanozyme Catalysis Restores Hair Follicle Integrity by Reversing Peroxisomal Collapse

Jiang, S., Choi, J., Jeon, S., Park, J., Kim, H. S., Kim, D.-I., Matta, C., Ryu, J. H., & Jin, E. (2026) · ACS Nano · doi:10.1021/acsnano.5c15733 · Cited by 2 · see citing works

Tissue Distribution and Versatile Functions of PPARs

Youssef, J., & Badr, M. Z. (2013) · Humana Press eBooks · doi:10.1007/978-1-62703-420-3_5 · Cited by 2 · see citing works

Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith–Lemli–Opitz Syndrome Presenting in the Neonate

Thomas, J. A., Lam, C., & Berry, G. T. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-40139-5.00023-1 · Cited by 2 · see citing works

Enfermedad peroxisomal, condrodisplasia rizomelica punctata tipo 1: reporte de caso

González-Ortiz, C. L., Leguizamón, S. B. J., & Contreras-García, G. A. (2017) · Revista chilena de pediatría · doi:10.4067/s0370-41062017000400011 · Cited by 2 · see citing works

PEX12 Novel Mutation: A Case Report on Iranian Girl with Childhood Onset Peroxisomal Disorder: Pseudo ALD?

Tabarestani, S. (2018) · Research in Pediatrics & Neonatology · doi:10.31031/rpn.2018.01.000524 · Cited by 2 · see citing works

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders

Arora, V., Bijarnia‐Mahay, S., Dubey, S., & Saxena, R. (2020) · Molecular Syndromology · doi:10.1159/000510480 · Cited by 2 · see citing works

Early Neuroimaging in Zellweger Spectrum Disorders

Nitika, G., & Neelu, D. (2022) · Neurology India · doi:10.4103/0028-3886.338656 · Cited by 1 · see citing works

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D‐Bifunctional Protein Deficiency in a Multicentre International Case Series

Diaz-Moreno, U., Brothwell, S., Darling, A., Baide‐Mairena, H., Lemonde, H. A., Turón‐Viñas, E., Korenev, S., Ibañez, S., Beesley, C. E., Gissen, P., et al. (2025) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70118 · Cited by 1 · see citing works

Zellweger syndrome: an older child with progressive foot deformity.

Westberry, D. E., & Pugh, L. I. (2013) · Europe PMC (PubMed Central) · doi:10.3233/pge-13070 · Cited by 1 · see citing works

Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders

Wanders, R. J. A., Aubourg, P. R., & Poll‐The, B. T. (2016) · Springer eBooks · doi:10.1007/978-3-662-49771-5_40 · Cited by 1 · see citing works

Stoffwechselkrankheiten mit Dysmorphien

Gärtner, J., Rosewich, H., Marquardt, T., & Hoffmann, G. F. (2014) · Springer eBooks · doi:10.1007/978-3-642-41866-2_58 · Cited by 1 · see citing works

A Floppy Infant with Facial Dysmorphism

Kumar, P., Nerakh, G., Katam, P., Oleti, T. P., & Pawar, S. V. (2021) · NeoReviews · doi:10.1542/neo.23-1-e45 · Cited by 1 · see citing works

Peroxisomale Krankheiten

Gärtner, J., & Rosewich, H. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_81-1 · Cited by 1 · see citing works

Abnormalities of Proliferation, Neuronal Migration, and Cortical Organization

Rajeswaran, R. (2022) · Springer eBooks · doi:10.1007/978-981-16-9209-3_9 · Cited by 1 · see citing works

History of PPAR Discovery

Youssef, J., & Badr, M. Z. (2013) · Humana Press eBooks · doi:10.1007/978-1-62703-420-3_2

The value of X-ray graphy in the diagnosis of the rhiozomelic chondrodysplasia punctata: a case report

Işıkay, S., Çarman, K. B., & Özçelik, A. A. (2013) · Gaziantep medical journal · doi:10.5455/gmj-30-2013-158

Defekte der Cholesterolbiosynthese

Hoffmann, G. F. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60300-0_83

Lactate dehydrogenase is C-terminally extended by stop codon read-through which targets this isoform into the peroxisomes

George, R. (2016) · doi:10.53846/goediss-5796

Contribution of Plain X-Rays to the Diagnosis of Rhiozomelic Chondrodysplasia Punctata: Report of Two Cases

Işıkay, S. (2014) · Güncel Pediatri · doi:10.4274/jcp.64936

Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system

Naga, D., Bhuwalka, R., Sunitha, T., Nallari, P., & Ananthapur, V. (2021) · European Journal of Medical Case Reports · doi:10.24911/ejmcr/173-1608540583

Peroxisomal Disorders

Lechpammer, M. (2021) · Cambridge University Press eBooks · doi:10.1017/9781316671863.061

Screening For Very Long Chain Fatty Acids in Egyptian Children with Inherited Peroxisomal Disorders

(2015) · Egyptian Journal of Pure and Applied Science · doi:10.21608/ejaps.2015.184774

Angeborene Glykosylierungsdefekte

Marquardt, T. (2016) · Springer eBooks · doi:10.1007/978-3-642-54671-6_82-1

Peroxisomale Krankheiten

Gärtner, J., & Rosewich, H. (2019) · Springer Reference Medizin · doi:10.1007/978-3-642-54671-6_81-2

Defekte der Cholesterolbiosynthese

Hoffmann, G. F. (2016) · Springer eBooks · doi:10.1007/978-3-642-54671-6_83-1

Peroxisomale Krankheiten

Gärtner, J., & Rosewich, H. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60300-0_81

Metabolomische Identifizierung von Biomarkern zur Charakterisierung peroxisomaler Erkrankungen

Brudy, A. (2023) · doi:10.53846/goediss-9621

Congenital Disorders of Glycosylation, Peroxisomal Disorders, and Smith-Lemli-Opitz Syndrome

Thomas, J. A., & Lam, C. T. (2023) · Avery's Diseases of the Newborn · doi:10.1016/b978-0-323-82823-9.00031-3

Spectrum of cortical malformations on fetal MRI: A pictorial essay

Rajamani, L., Rangasami, R., Chandrasekharan, A., Suresh, I., & Suresh, S. (2021) · Journal of Pediatric Neurosciences · doi:10.4103/jpn.jpn_245_20

Ataxia

Frucht, S. J., & Termsarasab, P. (2024) · Springer eBooks · doi:10.1007/978-3-031-52573-5_13

Signes d’appel anténataux des maladies héréditaires du métabolisme

Bouvier, R., Collardeau‐Frachon, S., Cordier, M., Guffon, N., Guibaud, L., & Vianey‐Saban, C. (2012) · Revue de médecine périnatale · doi:10.1007/s12611-012-0219-z

İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu

DOĞAN, S., Altaş, G. G., Kaymak, S. D., & Kılıç, M. (2026) · Ege Tıp Dergisi · doi:10.19161/etd.1807914

Peroxisomal Leukoencephalopathy

Poll‐The, B. T., & Engelen, M. (2012) · Seminars in Neurology · doi:10.1055/s-0032-1306385 · Cited by 11 · see citing works

MRI as diagnostic tool in early-onset peroxisomal disorders

van der Knaap, M. S., Wassmer, E., Wolf, N. I., Ferreira, P. C., Topçu, M., Wanders, R. J. A., Waterham, H. R., & Ferdinandusse, S. (2012) · Neurology · doi:10.1212/wnl.0b013e31825182dc · Cited by 43 · see citing works

Cerebral MRI as a valuable tool for the diagnosis of Zellweger syndrome spectrum patients and patients with peroxisomal β-oxidation defects

Rosewich, H., Grønborg, S. W., & Gärtner, J. (2008) · Neuropediatrics · doi:10.1055/s-0029-1215738

Reply to the Letter: “Diagnosis of Peroxisomal Disorders”

Panigrahi, I., Angurana, S. K., & Suthar, R. (2019) · Journal of Pediatric Neurology · doi:10.1055/s-0039-1692135 · Cited by 1 · see citing works

Peroxisomal Disorders

Poll‐The, B. T., Wanders, R. J. A., & Waterham, H. R. (2016) · Oxford University Press eBooks · doi:10.1093/med/9780199972135.003.0062 · Cited by 1 · see citing works