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Scholar Results 1 - 10 of about 101 related to Njølstad: Permanent neonatal diabetes caused by glucokinase deficiency. (0.11 sec) 

Permanent neonatal diabetes caused by glucokinase deficiency

- diabetesjournals.org
PR Njølstad, JV Sagen, L Bjørkhaug, S Odili … - Diabetes, 2003 - Am Diabetes Assoc
Neonatal diabetes can be either permanent or transient. We have recently shown
that permanent neonatal diabetes can result from complete deficiency of
glucokinase activity. Here we report three new cases of glucokinase-related ...
Cited by 85 - Related articles - BL Direct - All 5 versions

Permanent neonatal diabetes in an Asian infant


JR Porter, NJ Shaw, TG Barrett, AT Hattersley, … - The Journal of pediatrics, 2005 - Elsevier
Neonatal diabetes has been defined as hyperglycemia requiring insulin treatment
that presents within the first 3 months of life. 1 It is a rare condition with
an estimated incidence of 1 in 400,000 live births in the UK population. 1 ...
Cited by 28 - Related articles - All 4 versions

Neonatal diabetes mellitus due to complete glucokinase deficiency


PR Njolstad, O Sovik, A Cuesta-Munoz, L … - New England Journal of Medicine, 2001 - content.nejm.org
A baby girl of Norwegian ancestry was delivered by cesarean section at 36 weeks'
gestation (birth weight, 1670 g; length, 42 cm) because of poor fetal growth
(Subject III-7 in Family 1 in Figure 1). 6 Her parents were first cousins, ...
Cited by 192 - Related articles - BL Direct - All 7 versions

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of …

- diabetesjournals.org [PDF] 
IK Temple, RJ Gardner, DJ Mackay, JC Barber … - Diabetes, 2000 - Am Diabetes Assoc
Transient neonatal diabetes (TND) is a rare type of dia- betes that presents
soon after birth, resolves by 18 months, and predisposes to diabetes later in
life. A total of 30 patients were ascertained and investigated for ...
Cited by 122 - Related articles - BL Direct - All 6 versions

Permanent diabetes mellitus in the first year of life


D Iafusco, M Stazi, R Cotichini, M Cotellessa, … - Diabetologia, 2002 - Springer
Aims/hypothesis. The pathogenesis of permanent dia- betes mellitus diagnosed
early in life is heterogeneous and, in most cases, not known. We aimed at
identify- ing markers differentiating between non-autoimmune and autoimmune ...
Cited by 46 - Related articles - BL Direct - All 6 versions

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1

- endojournals.org
VM Schwitzgebel, A Mamin, T Brun, B Ritz- … - Journal of Clinical Endocrinology & Metabolism, 2003 - Endocrine Soc
Neonatal diabetes mellitus can be transient or permanent. The severe form of
permanent neonatal diabetes mellitus can be associated with pancreas agenesis.
Normal pancreas development is controlled by a cascade of transcription ...
Cited by 48 - Related articles - BL Direct - All 6 versions

The genetic abnormality in the beta cell determines the response to an oral glucose load


A Stride, M Vaxillaire, T Tuomi, F Barbetti, PR … - Diabetologia, 2002 - Springer
Diabetes is defined on the basis of both fasting glu- cose concentration and the
glucose concentration 2 h following a glucose load. Recent revisions by the
American Diabetes Association (ADA) and World Health Organisation (WHO) ...
Cited by 75 - Related articles - BL Direct - All 4 versions

Neonatal and very-early-onset diabetes mellitus


M Polak, J Shield - Seminars in Neonatology, 2004 - Elsevier
Transient (TNDM) and permanent neonatal diabetes mellitus (PNDM) are rare
conditions occurring in one in 400 000–500 000 live births. In TNDM,
growth-retarded infants develop diabetes in the first few weeks of life ...
Cited by 65 - Related articles - All 8 versions

Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating …

- endojournals.org
AL Gloyn, EA Cummings, EL Edghill, LW Harries … - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc
Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the
ß-cell ATP-sensitive potassium channel have recently been shown to be a common
cause of permanent neonatal diabetes. In 80% of probands, these are ...
Cited by 42 - Related articles - BL Direct - All 7 versions

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes


W Trust - Human mutation - interscience.wiley.com
Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by
severe hyperglycemia constantly requiring insulin treatment from its onset.
Complete deficiency of glucokinase (GCK) can cause PNDM; however, the ...
Cited by 70 - Related articles - All 4 versions


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