Results 101 to 110 of about 2,160,111 (122)

Neonatal Onset Seizures and Hypotonia Due to D-Bifunctional Protein Deficiency. [PDF]

Indian J Pediatr
Yahia S, Ghozzy D, Wahba Y, Abdelmoneim Z.   +3 more
europepmc   +1 more source

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls. [PDF]

Genes (Basel)
Cipriano L, Petillo R, Priolo M, D'Ambrosio P.   +3 more
europepmc   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

Pathophysiological significance of cholesterol in ciliopathies. [PDF]

Fujita Med J
Itabashi T, Morita T, Hirosawa M, Kobayashi D, Hasan A, Kimura S, Itoh H, Miyamoto T.   +7 more
europepmc   +1 more source

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report. [PDF]

BMC Pediatr
Shirvan BB, Ahangari N, Rezaie R, Layegh P, Karimiani EG, Hashemi N, Toosi MB.   +6 more
europepmc   +1 more source

What Peroxisomes (Don't) do to Mitochondria. [PDF]

Contact (Thousand Oaks)
Bülow MH, Thoms S.
europepmc   +1 more source

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review. [PDF]

Mol Syndromol
Calisgan K, Aghakıshılı HB, Soylu EI, Col TA, Cansever MS, Zubarioglu T, Aktuglu Zeybek AC, Kiykim E.   +7 more
europepmc   +1 more source

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Zellweger Spectrum Disorder

Ophthalmology, 2023
Fares Antaki, Catherine Argyriou, Nancy Braverman   +2 more
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