Results 151 to 160 of about 3,629,719 (185)

Laron’s syndrome in two siblings

Indian Journal of Pediatrics, 2007
Partha Pratim Chakraborty, Dipanjan Bandyopadhyay   +1 more
exaly   +3 more sources

Lessons from Laron syndrome

Endocrine Abstracts, 2023
Haim Werner
openaire   +2 more sources

Growth Hormone Insensitivity (Laron Syndrome)

Reviews in Endocrine and Metabolic Disorders, 2002
Zvi Laron
exaly   +3 more sources

Is the Laron Mouse an Accurate Model of Laron Syndrome?

Molecular Genetics and Metabolism, 1999
The classical form of Laron syndrome (LS: growth ormone, GH, resistance or insensitivity) (1,2) is an xample of deletions or mutations in the GHR gene esulting in dysfunction of the GH receptor (R) (3). bout 25 different mutations (partial gene deletions, onsense and missense point mutations) have been escribed in various families (4–12).
J J, Kopchick, Z, Laron
openaire   +2 more sources

MECHANISMS IN ENDOCRINOLOGY: Transient juvenile hypoglycemia in growth hormone receptor deficiency – mechanistic insights from Laron syndrome and tailored animal models

European Journal of Endocrinology, 2021
The aim of the study is to find possible explanations for vanishing juvenile hypoglycemia in growth hormone receptor deficiency (GHRD) in human patients and animal models. We reviewed parameters of glucose metabolism in distinct age groups into two human
Arne Hinrichs, S. Renner, M. Bidlingmaier, J. Kopchick, E. Wolf   +4 more
semanticscholar   +1 more source

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome

Journal of Pediatric Endocrinology & Metabolism (JPEM)
Objectives Protein glycosylation is a crucial process involving the addition of oligosaccharides to proteins, which plays a significant role in stabilizing proteins and mediating protein–protein interactions.
S. A. Uçaktürk, Emre Özer, Ahmet Cevdet Ceylan, E. Mengen   +3 more
semanticscholar   +1 more source

LARON SYNDROME: DIFFERENT ASPECTS OF INSULIN-LIKE GROWTH FACTOR-1 DEFICIENCY

Natural resources of the Earth and environmental protection, 2022
Annotation: Laron syndrome (Laron-type dwarfism) is a rare endocrine genetic disorder with an autosomal recessive inheritance pattern caused by a variety of mutations in the growth hormone receptor.
Fedyainova I. K.
semanticscholar   +1 more source

Laron syndrome: typical and atypical forms

Baillière's Clinical Endocrinology and Metabolism, 1996
Since the original description of LS by Laron in 1966, this rare condition has continued to assume an importance far beyond the number of affected cases as a unique model of GHR dysfunction. Recently, the potential of therapy with recombinant IGF-I has led to the recruitment and detailed study of patients from a heterogeneous genetic and geographical ...
K A, Woods, M O, Savage
openaire   +2 more sources

A Case of Laron Syndrome Diagnosed in Slovenia

Journal of Pediatric Endocrinology and Metabolism, 1994
We report the first case of Laron syndrome (LS) diagnosed in Slovenia. The boy, a product of non-consanguineous Slovenian parents of normal height, presented with slow growth and motor development since birth. At age 4 and 6 years, he had all the characteristic signs of LS, identical to those in growth hormone deficiency (GHD).
C, Krzisnik, A, Silbergeld, Z, Laron
openaire   +2 more sources

Ocular Findings in Laron Syndrome

2010
Ophthalmological investigations of untreated Laron syndrome patients revealed retarded growth of the ocular globe. The shorter anterior length of the anterior chamber was normalized by IGF-I treatment. The retinal vascularization was reduced as were the number of tortuosities of the arteries.
Dan H. Bourla, Dov Weinberger
openaire   +1 more source