Results 91 to 100 of about 8,782 (207)
The diagnosis and management of patients with idiopathic osteolysis [PDF]
, 2011 Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types.
Ali Al Kaissi +6 more
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LABRAD : Vol 41, Issue 3 - December 2015 [PDF]
, 2015 Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
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Treatment of maple syrup urine disease with high flow hemodialysis in a neonate
The Turkish Journal of Pediatrics, 2019 Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD ...
Fatih Aygün +4 more
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Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Journal of Biochemical and Clinical Genetics, 2019 Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni +2 more
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Molecular genetics of maple syrup urine disease in the Turkish population
The Turkish Journal of Pediatrics, 2009 In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany +7 more
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Stem Cell Research, 2019 The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG
Haiyan Zhang +8 more
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3-Methylcrotonyl CoA Carboxylase Deficiency: Disorder or Just a Biochemical Phenotype? [PDF]
, 2012 Introduction: 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) was considered extremely rare before newborn screening (NBS) was undertaken but is now found in a number of asymptomatic babies or sometimes their mothers.
Bueno, Maria +6 more
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Cutaneous Manifestation Maple Syrup Urine Disease: Case Report
Revista FinlayMaple syrup urine disease or leucinosis is caused by an inborn error in the metabolism of three essential branched chain amino acids. During its complex dietary-nutritional management, skin lesions may appear secondary to amino acid deficiency.
Gabriel Alejandro Díaz Bernal +2 more
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CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
doaj
Population Screening for Genetic Disease [PDF]
, 1977 Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable ...
Mamunes, Peter
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