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Scholar Results 1 - 10 of about 101 related to Abdulhadi-Atwan: Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism.... (0.11 sec) 

Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy …

- diabetesjournals.org
M Abdulhadi-Atwan, JD Bushman, S Tornovsky … - Diabetes, 2008 - Am Diabetes Assoc
RESEARCH DESIGN AND METHODS—A female aged 10.5 years presented with new-onset,
antibody-negative diabetes (A1C 10.6%). She was born large for gestational age
(5 kg) to a nondiabetic mother and developed frequent hypoglycemic ...
Cited by 2 - Related articles - All 5 versions

Novel de novo mutation in SUR1 presenting as hyperinsulinism in infancy followed by overt …


D Zangen - Am Diabetes Assoc
1 Division of Pediatric Endocrinology, Department of Pediatrics, Hadassah Hebrew
University Medical Center, Jerusalem 91120, Israel. 2 Center for Research on
Occupational and Environmental Toxicology, Oregon Health & Science ...
Related articles - All 2 versions

Skin metastasis of pancreatic vasoactive intestinal polypeptide tumor: case report and review …


R Ram, N Natanzi, P Saadat, D Eliav, MS … - Archives of Dermatology, 2006 - archderm.highwire.org
Four months later, the patient presented with a 2.5 x 1.5 x 1.0-cm tan to yellow
nodule on the left forehead. Shave biopsy findings revealed an intraepidermal
and dermal neoplasm composed of uniform, small to intermediate-sized cells ...
Cited by 3 - Related articles - BL Direct - All 3 versions

Glucose Intolerance and Diabetes Are Observed in the Long-Term Follow-Up of …

- diabetesjournals.org
M Gussinyer, M Clemente, R Cebrián, D Yeste … - Diabetes care, 2008 - Am Diabetes Assoc
RESULTS—Patient 1 (now aged 31 years) developed insulin-dependent diabetes at
the age of 25 years. In patient 2 (now aged 17 years), impaired fasting glucose
and a diabetic OGTT response with normal A1C values have been observed ...
Cited by 3 - Related articles - BL Direct - All 7 versions

Alanine in HI: A Silent Mutation Cries Out!


JH Shah, DJ Maguire, TB Munce, A Cotterill - Advances in experimental medicine and biology, 2008 - Springer
Abstract It is a widely held paradigm in molecular biology that a change in the
third base of a codon is silent in terms of expression. In this investigation,
results are presented that challenge that paradigm, at least in terms of ...
Cited by 3 - Related articles - BL Direct - All 3 versions

A partial form of pseudohypoaldosteronism type I without renal sodium wasting.


A Ballauff, U Wendel, I Kupke, U Kuhnle - The Journal of pediatric endocrinology - ncbi.nlm.nih.gov
Multiple target organ involvement in pseudohypoaldosteronism is known but
partial defects involving only a single organ system have also been described.
In this report we present a girl with early symptoms and a very mild course ...
Cited by 3 - Related articles - BL Direct

Efficacy of congenital hypothyroidism neonatal screening in preterms less than 32 weeks of …


L GRUNEIRO-PAPENDIECK, A CHIESA, V … - Journal of pediatric endocrinology & metabolism, 2005 - cat.inist.fr
Objective: To evaluate the double screening performed for congenital
hypothyroidism(CH) to preterm infants< 32 weeks of gestational age(GA) between
1994 and 2003. Infants and Methods: TSH was assessed by IFMA. Infants were ...
Cited by 3 - Related articles - All 2 versions

[CITATION] Comparison of fetal and neonatal growth curves in detecting growth restriction


B Evidence, AM Marconi, S Ronzoni, P Bozzetti, … - Obstet Gynecol, 2008
Cited by 3 - Related articles

[PDF] Thyroid function disorders-Guidelines of the Netherlands Association of Internal Medicine


AF Muller, A Berghout, WM Wiersinga, A Kooy … - Neth J Med, 2008 - njmonline.nl
Thyroid function disorders are common with a female to male ratio of 4 to 1. in
adult women primary hypothyroidism and thyrotoxicosis have a prevalence of
3.5/1000 and 0.8/1000, respectively. This guideline is aimed at secondary ...
Cited by 4 - Related articles - View as HTML - All 6 versions

Prospective diagnosis of pseudohypoaldosteronism


AM Schindler, GE Bergman - Pediatrics(Evanston), 1986 - cat.inist.fr
Prospective diagnosis of pseudohypoaldosteronism. AM SCHINDLER, GE BERGMAN
Pediatrics(Evanston) 78:33, 516-518, American Academy of Pediatrics., 1986. ...
Cited by 3 - Related articles - All 3 versions


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