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Academic Journal

Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy.

Authors : Waddington Cruz, Márcia¹ (AUTHOR) ; Amass, Leslie² (AUTHOR); Keohane, Denis² (AUTHOR)

Source: Amyloid. Sep2016, Vol. 23 Issue 3, p178-183. 6p.

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Academic Journal

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

Authors : Hrčková, Gabriela¹ ; Jankó, Viktor¹ ; Kytnarová, Jitka²

Source: European Journal of Pediatrics. Sep2016, Vol. 175 Issue 9, p1199-1207. 9p. 2 Diagrams, 3 Charts.

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Academic Journal

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.

Authors : Brodbeck, Michael¹ ; Yousif, Q.¹; Diener, P. A.²

Source: BMC Research Notes. 6/7/2016, Vol. 9, p1-4. 4p. 4 Color Photographs, 1 Black and White Photograph, 1 Diagram.

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Academic Journal

'Red-flag' symptom clusters in transthyretin familial amyloid polyneuropathy.

Authors : Conceição, Isabel¹; González‐Duarte, Alejandra²; Obici, Laura³

Source: Journal of the Peripheral Nervous System. Mar2016, Vol. 21 Issue 1, p5-9. 5p.

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Academic Journal

Wilson's disease: Early Diagnostic Value of Serum Ceruloplasmin Level to Prevent Chronic Psychosis - Case Report.

Authors : Anis, Iqra¹ ; Masood, Maha¹; Ahmed, Shaista^1,2

Source: Annals of Abbasi Shaheed Hospital & Karachi Medical & Dental College. Mar2016, Vol. 21 Issue 1, p68-72. 5p.

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Academic Journal

Cronkhite- Canada syndrome; a case report and review of the literature.

Authors : Safari, Mohammad Taghi¹; Shahrokh, Shabnam¹; Ebadi, Shahram¹

Source: Gastroenterology & Hepatology from Bed to Bench. Winter2016, Vol. 9 Issue 1, p58-63. 6p. 1 Chart.

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Academic Journal

Peeling skin in newborn with abdominal distension.

Authors : Maitra, Sujay Kumar; Das, Nilay Kanti¹; Lal, Niharika Ranjan¹

Source: Indian Journal of Paediatric Dermatology. Jan-Mar2016, Vol. 17 Issue 1, p29-31. 3p. 1 Color Photograph, 1 Black and White Photograph.

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Academic Journal

WHITE LOCK OF HAIR WITH HETEROCHROMIA.

Authors : Ray, Sanghamitra¹ ; Jain, Prakash Chand¹

Source: Pediatric Oncall Journal. Apr-Jun2016, Vol. 13 Issue 2, p55-55. 1p.

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فلترة النتائج

Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy.

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.

'Red-flag' symptom clusters in transthyretin familial amyloid polyneuropathy.

Wilson's disease: Early Diagnostic Value of Serum Ceruloplasmin Level to Prevent Chronic Psychosis - Case Report.

Cronkhite- Canada syndrome; a case report and review of the literature.

Peeling skin in newborn with abdominal distension.

WHITE LOCK OF HAIR WITH HETEROCHROMIA.

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