Results 41 to 50 of about 1,071 (127)

Case Report: Child with Menkes syndrome complicated by bladder diverticula. [PDF]

Front Pediatr
Wu G, Gao P, Zhang W, Li H, Li Z, Wu R, Li Z, Huang M, Xu Z.   +8 more
europepmc   +1 more source

Two Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging. [PDF]

Cureus
Katase S, Tsuchiya K, Habu N, Hada I, Takahashi S, Kurayama R, Gomyo M, Watanabe M, Iwamoto K, Yokoyama K.   +9 more
europepmc   +1 more source

Menkes' kinky hair syndrome.

Indian pediatrics, 1981
R H, Merchant, A, Kandhari, A, Irani, M, Desai   +3 more
openaire   +1 more source

Culinary Clues: Unraveling Dermatological Signs through Kitchen Analogies. [PDF]

Indian Dermatol Online J
Soumiya I, Manogna P, Logamoorthy R, Karthikeyan K.   +3 more
europepmc   +1 more source

A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child. [PDF]

Skin Appendage Disord
Golubov-Mandujano M, Yamazaki-Nakashimada MA, Ugalde-Trejo NX, Scheffler-Mendoza SC, Sáez-de-Ocariz M.   +4 more
europepmc   +1 more source

Hutch diverticulum revealed by intermittent inguinal mass and associated vesico-ureteral reflux in a child. [PDF]

Urol Case Rep
Chaabouni A, Ouertani K, Elleuch W, Fourati M, Rebai N, Slimen MH.   +5 more
europepmc   +1 more source

Clinical and Genetic Functional Validation of a Novel <i>AP1S1</i> Mutation Causing MEDNIK Syndrome. [PDF]

Int J Genomics
Duan L, Shen R, Yin G, Tao R, Zhang Y, Yu W, Bao L, Ye W, Yin R, Tian X.   +9 more
europepmc   +1 more source

Intravenous AAV9-ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse model. [PDF]

Sci Adv
Venkataraman L, Jeanty CJ, Kaniganti T, Kennedy BJ, Sullivan P, Goldstein DS, Kaler SG.   +6 more
europepmc   +1 more source

Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review. [PDF]

BMC Pediatr
Zhu J, Liao Y, Li X, Jia F, Ma X, Qu H.
europepmc   +1 more source

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations. [PDF]

Cureus
Qasim H, Abu Shugaer M, Khattab K, Leoni MLG, Varrassi G.   +4 more
europepmc   +1 more source