Growth hormone deficiency in Down's syndrome children.

Evolved developmental homeostasis disturbed in LB1 from Flores, Indonesia, denotes Down syndrome and not diagnostic traits of the invalid species Homo floresiensis. Proc Natl Acad Sci U S A (2014) 1.10

Diabetic retinopathy in Down's syndrome. Br J Ophthalmol (1998) 0.92

Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol (1985) 3.83

Treatment of children with Down syndrome and growth retardation with recombinant human growth hormone. J Pediatr (1991) 2.96

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci U S A (2001) 2.14

Alzheimer's disease in Down's syndrome: clinicopathologic studies. Neurology (1985) 1.75

Time course of hemostatic abnormalities in sepsis and its relation to outcome. Chest (1993) 1.72

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest (1998) 1.40

Basal ganglia calcification (BGC) in Down's syndrome (DS)--another manifestation of premature aging. Ann N Y Acad Sci (1982) 1.26

Temporal accrual of complement proteins in amyloid plaques in Down's syndrome with Alzheimer's disease. Am J Pathol (2000) 1.13

Brain growth in Down syndrome subjects 15 to 22 weeks of gestational age and birth to 60 months. Clin Neuropathol (1990) 1.11

Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med (2001) 1.10

Clinicopathological findings associated with agenesis of the corpus callosum. Brain Dev (1987) 1.06

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells. Mol Genet Metab (2000) 0.99

Conformational mimicry in Alzheimer's disease. Role of apolipoproteins in amyloidogenesis. Am J Pathol (1995) 0.99

Fragile X syndrome: associated neurological abnormalities and developmental disabilities. Ann Neurol (1985) 0.97

Regional differences in apolipoprotein E immunoreactivity in diffuse plaques in Alzheimer's disease brain. Neurosci Lett (1994) 0.93

Slipped capital femoral epiphysis during treatment with recombinant growth hormone for isolated, partial growth hormone deficiency. J Pediatr (1990) 0.92

Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions. J Neuropathol Exp Neurol (2001) 0.91

Evidence of arrest of neurogenesis and synaptogenesis in brains of patients with Down's syndrome. N Engl J Med (1984) 0.90

Head circumference of children with Down syndrome (0-36 months) Am J Med Genet (1992) 0.89

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Hum Genet (1998) 0.88

Deposition of apolipoproteins E and J in senile plaques is topographically determined in both Alzheimer's disease and Down's syndrome brain. Brain Res (1995) 0.88

Ageing in higher functioning adults with Down's syndrome: an interim report in a longitudinal study. J Intellect Disabil Res (1992) 0.87

Normal ageing in adults with Down's syndrome: a longitudinal study. J Intellect Disabil Res (1996) 0.87

Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro. Mol Genet Metab (1999) 0.85

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. Mol Genet Metab (1999) 0.85

The adult and a new late adult forms of neuronal ceroid lipofuscinosis. Acta Neuropathol (1992) 0.85

Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses. Genet Test (2000) 0.85

C-peptide and glucagon profiles in minority children with type 2 diabetes mellitus. J Clin Endocrinol Metab (2001) 0.83

Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses. Adv Genet (2001) 0.83

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. Hum Mutat (2000) 0.83

Studies of membrane association of CLN3 protein. Mol Genet Metab (1999) 0.82

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet Med (2001) 0.81

The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study. Acta Neuropathol (1997) 0.81

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. Clin Genet (1998) 0.80

Hypothalamic versus pituitary dysfunction in Down's syndrome as cause of growth retardation. J Intellect Disabil Res (1996) 0.80

Precocious puberty in a child with unilateral Leydig cell tumor of the testis following orchiopexy. J Urol (1993) 0.80

Ultrastructural, neurological, and glycosaminoglycan abnormalities in lowe's syndrome. Ann Neurol (1984) 0.79

Beta-protein immunoreactivity in brains of patients with neuronal ceroid lipofuscinosis: ultrastructural and biochemical demonstration. Neurosci Lett (1990) 0.79

Congenital ceroid-lipofuscinosis. Pediatr Neurol (1992) 0.79

Seizures in children with Down syndrome: etiology, characteristics and outcome. Dev Med Child Neurol (1991) 0.79

Immunoreactivity of ceroid lipofuscin storage pigment in Batten disease with monoclonal antibodies to the amyloid beta-protein. N Engl J Med (1989) 0.79

Evidence for phosphorylation of CLN3 protein associated with Batten disease. Biochem Biophys Res Commun (1998) 0.78

Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. Mol Genet Metab (1999) 0.78

Robinow syndrome with growth hormone deficiency: treatment with growth hormone. J Pediatr Endocrinol Metab (1999) 0.78

Glycoprotein metabolism in neuronal ceroid lipofuscinosis fibroblasts. Biochem Med Metab Biol (1992) 0.77

Posttranslational modification of CLN3 protein and its possible functional implication. Mol Genet Metab (1999) 0.77

Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro. Mol Genet Metab (1999) 0.77

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease. Eur J Paediatr Neurol (2001) 0.77

CLN-encoded proteins do not interact with each other. Neurogenetics (2000) 0.77

A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis. Clin Chim Acta (1999) 0.77

CLN3 disease process: missense point mutations and protein depletion in vitro. Eur J Paediatr Neurol (2001) 0.76

Early amyloid-beta deposits show different immunoreactivity to the amino- and carboxy-terminal regions of beta-peptide in Alzheimer's disease and Down's syndrome brain. Neurosci Lett (1995) 0.76

Effects of beta-adrenergic blockade in an osteoblast-like cell line. J Orthop Res (1992) 0.76

Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast cultures. Neurosci Lett (1993) 0.76

Immunoblotting with antiphosphoamino acid antibodies: importance of the blocking solution. Anal Biochem (1999) 0.76

First African-American child with juvenile neuronal ceroid lipofuscinosis. Am J Med Genet (1998) 0.76

Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study. Acta Neuropathol (1985) 0.76

Growth hormone treatment in Down syndrome. J Pediatr (1994) 0.75

On the association of fragile X with autism. J Autism Dev Disord (1988) 0.75

Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis. Clin Chem (2000) 0.75

Marginal glioneuronal heterotopias in nine cases with and without cortical abnormalities. J Child Neurol (1986) 0.75

Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits. Eur J Paediatr Neurol (2001) 0.75

Deletion of lysine 121 creates a temperature-sensitive alteration in insulin binding by the insulin receptor. J Biol Chem (1995) 0.75

Outlook for future treatment. Adv Genet (2001) 0.75

Beta-amyloid protein probe hybridized to chromosome 9 in 3 Alzheimer disease individuals. Prog Clin Biol Res (1989) 0.75

Expression studies of CLN3 protein. Neuropediatrics (1997) 0.75

Growth hormone replacement therapy in children with leukemia in remission. Clin Pediatr (Phila) (2001) 0.75

Normal superoxide radical production in the neuronal ceroid-lipofuscinoses. Neuropediatrics (1996) 0.75

Clinical features of a neuropathologically verified familial Alzheimer's cohort with onset in the fourth decade: comparison with senile onset Alzheimer's disease and etiopathogenic implications. Prog Clin Biol Res (1989) 0.75

Diagnosis of organic acidemia in developing countries. Clin Chim Acta (1991) 0.75

Identical twins discordant for Sotos syndrome. Am J Med Genet (1998) 0.75

Increase in bone density and plasma osteocalcin during growth hormone therapy in growth hormone deficient children. J Pediatr Endocrinol Metab (1997) 0.75

Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder? J Child Neurol (1999) 0.75

Hypocalcemia in children: pathogenesis and management. Clin Pediatr (Phila) (2001) 0.75

Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis. Am J Med Genet (1995) 0.75

The diagnostic value of ultrastructural studies of skin-punch biopsies and buffy coat for the early diagnosis of some neurodegenerative diseases. Ann N Y Acad Sci (1986) 0.75

Reassessment of a chromosome 12q+ marker by fluorescent in situ hybridization (FISH). Clin Genet (1992) 0.75

Leukocytes in neuronal ceroid-lipofuscinoses: function and apoptosis. Brain Dev (1997) 0.75