نتایج جستجو برای: congenital metabolic disorders

تعداد نتایج: 966749  

2015
Piero Pavone Andrea D. Praticò Raffaele Falsaperla Martino Ruggieri Marcella Zollino Giovanni Corsello Giovanni Neri

Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenita...

Journal: :Annals of Translational Medicine 2018

Journal: :Journal of Clinical Pathology 1976

Journal: :Annals of physical and rehabilitation medicine 2014
W Kessomtini H Laajili W Said S Jerbi

Congenital orthopaedic disorders are not infrequent. Even though some orthopaedic disorders are immediately obvious at birth (such as congenital talipes equinovarus [CTEV]), others are not apparent or may even be hidden (such as congenital bone hypoplasia). This means that a comprehensive orthopaedic examination is of great value when screening for congenital orthopaedic disorders [7]. Congenit...

Journal: :Circulation. Cardiovascular genetics 2009
Matthew Kelly Christopher Semsarian

Over the last 2 decades, major advances have been made in our identification and understanding of the genetic basis of cardiovascular disease. More than 40 cardiovascular disorders have now been identified to be directly caused by single-gene defects. These disorders span all aspects of cardiovascular disease and affect all parts of the heart structure. They include the inherited cardiomyopathi...

2009
Matthew Kelly

Over the last 2 decades, major advances have been made in our identification and understanding of the genetic basis of cardiovascular disease. More than 40 cardiovascular disorders have now been identified to be directly caused by single-gene defects. These disorders span all aspects of cardiovascular disease and affect all parts of the heart structure. They include the inherited cardiomyopathi...

Journal: :Developmental Medicine & Child Neurology 2007

Journal: :Annals of Translational Medicine 2018

2016
Roksana JANGHORBAN Fatemeh AZARKISH

The World Health Organization defines congenital disorders as "structural or functional abnormalities which are present from birth, whether recognized at birth or later" (1). Data on the rate of congenital disorders in Iran is sparse. Insufficient birth defects registration or surveillance system of fetuses and infants lead to scarce comprehensive data about the prevalence of congenital disorde...

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