نتایج جستجو برای: pseudohypoaldosteronism type 1

تعداد نتایج: 3647227  

Journal: :international journal of pediatrics 0
peyman eshraghi department of pediatric endocrinology, imam reza hospital, mashhad university of medical sciences, mashhad, iran. foad faroughi student research committee, faculty of medicine, mashhad university of medical sciences, mashhad, iran. mohammad karim alizadeh student research committee, faculty of paramedicine, mashhad university of medical sciences, mashhad, iran.

background: tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. it is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (fah) enzyme, the final enzyme in the tyrosine degradation pathway. the disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...

Journal: :Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 2011

Fatemehsoltan Zegheibizadeh Hamid Ahanchian Hamid Reza Kianifar Mehri Najafi Sani Monnavar Afzal Aghaee Seyed Ali Jafari

Introduction To define the clinical features, biochemical and histological findings and outcome of three forms of autoimmune hepatitis.   Materials and Methods In a cross sectional study between November 2001 to January 2008 in Tehran and Mashhad university of medical sciences, 61 children who diagnosed as AIH (40 girls and 21 boys) have been analyzed for their clinical, serological, and histol...

2008
M. Niedermaier

Suppose a regularised functional integral depends holomorphically on a parameter that receives only a finite renormalization. Can one expect the correlation functions to retain the analyticity in the parameter after removal of the cutoff(s)? We examine the issue in the Sinh-Gordon theory by computing the intrinsic 4-point coupling as a function of the Lagrangian coupling β. Drawing on the conje...

2008
Raj Chetty Emmanuel Saez

This paper characterizes the welfare gains from government intervention when the private sector provides partial insurance. We analyze models in which adverse selection, preexisting information, or imperfect optimization in private insurance markets create a role for government intervention. We derive simple formulas that map existing empirical estimates into quantitative predictions for optima...

2007
B. A. DUBROVIN S. P. NOVIKOV

Algebro-geometric Poisson brackets for real, finite-zone solutions of the Korteweg–de Vries (KdV) equation were studied in [1]. The transfer of this theory to the Toda lattice and the sinh-Gordon equation is more or less obvious. The complex part of the finite-zone theory for the nonlinear Schrödinger equation (NS) and the sine-Gordon equation (SG) is analogous to KdV, but conditions that solut...

Journal: :The Journal of clinical investigation 2008
Masoud Shekarabi Nathalie Girard Jean-Baptiste Rivière Patrick Dion Martin Houle André Toulouse Ronald G Lafrenière Freya Vercauteren Pascale Hince Janet Laganiere Daniel Rochefort Laurence Faivre Mark Samuels Guy A Rouleau

Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید