Results 101 to 110 of about 1,141,621 (185)

Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome

, 1986
A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.
Oorthuys, J. W., Schutgens, R. B., Bleeker-Wagemakers, E. M., Wanders, R. J.   +3 more
core  

ANALYSIS OF PEROXISOMES IN LYMPHOBLASTS - ZELLWEGER SYNDROME AND A PATIENT WITH A DELETION IN CHROMOSOME-7

, 1993
Lymphoblasts are useful cells for the diagnosis and basic studies of several human genetic disorders. Peroxisomal disorders are usually diagnosed by using fibroblasts or blood samples.
SANTOS, MJ, LAZAROW, PB, DRWINGA, H, MOSER, HW, MOSER, AB   +4 more
core  

Zellweger syndrome; identification of mutations in <i>PEX19</i> and <i>PEX26</i> gene in Saudi families. [PDF]

Ann Med
Alayoubi AM, Ijaz A, Wali A, Hashmi JA, Alharbi A, Basit S.   +5 more
europepmc   +1 more source

Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum. [PDF]

Oxf Med Case Reports
Zou H, Sutherland L, Geddie B.
europepmc   +1 more source

A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma. [PDF]

Saudi J Ophthalmol, 2018
Galvez-Ruiz A, Galindo-Ferreiro A, Alkatan H.   +2 more
europepmc   +1 more source

Biallelic Deletion of <i>PEX26</i> Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease. [PDF]

Mol Syndromol
Yalçınkaya B, Sağlam KA, Terali K, Tekin E, Taslak H, Türkyılmaz A.   +5 more
europepmc   +1 more source

Zellweger's syndrome.

Indian pediatrics, 1997
R C, Shroff, A, Patil, R H, Merchant, V P, Udani, M P, Colaco, S, Prabhu   +5 more
openaire   +1 more source

Zellweger syndrome.

Indian pediatrics, 2003
M L, Kulkarni, Madhu S, Pujar
openaire   +1 more source

Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes. [PDF]

Sci Rep, 2018
Soliman K, Göttfert F, Rosewich H, Thoms S, Gärtner J.   +4 more
europepmc   +1 more source

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. [PDF]

BMJ Case Rep, 2016
Cardoso P, Amaral ME, Lemos S, Garcia P.
europepmc   +1 more source