Results 71 to 80 of about 1,418 (198)

Wispy, dystrophic hair in a pediatric patient: Expanding the differential with tricho-dento-osseus syndrome. [PDF]

JAAD Case Rep
Chernyak M, Sargent B, Zadeh N, Lee BA.
europepmc   +1 more source

Menke's Disease: Extra-hepatic storage of copper in a human foetus [PDF]

, 1975
Damsgaard, E., Heydorn, K., Horn, N., Mikkelsen, M., Tygstrup, I.   +4 more
core  

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by <i>AP1S1</i> and <i>AP1B1</i> mutations. [PDF]

Front Neurol
Wu R, Luo X, Wang XP.
europepmc   +1 more source

Trace element metabolism in children with Menke's syndrome [PDF]

, 1976
Damsgaard, E., Heydorn, K, Horn, N., Mikkelsen, M., Tygstrup, I.   +4 more
core  

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement. [PDF]

Children (Basel)
Pavone P, Pappalardo XG, Scrofani F, Falsaperla R, Pizzo F, Polizzi A, Corsello A, Consentino MC, Parano E, Ruggieri M.   +9 more
europepmc   +1 more source

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

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

Case for diagnosis. Hair analysis in a child with delayed psychomotor development and fragile and brittle hair: Trichothiodystrophy. [PDF]

An Bras Dermatol, 2023
López Riquelme I, Andamoyo Castañeda A, Gómez Moyano E, Vera Casaño Á.   +3 more
europepmc   +1 more source

Genetic Disorders Associated with Gingival Enlargement [PDF]

, 2011
Ghada El Kamah, Heba Gamal El Din, Maha Abouzaid, Mennat Mehrez, Mostafa Ibrahim   +4 more
core   +2 more sources

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