听力与言语-语言病理学

行为科学

医学伦理学

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  • Identification of cellular processes that are rapidly modulated in response to tracheal occlusion within mice lungs.

    abstract::Lung development progresses through a process reliant on mechanical cell stretch. However, this process is not well defined at the molecular level. Our goal was to globally analyze the transcriptome of fetal mouse lungs following short periods of tracheal occlusion (TO) to identify cellular processes that are rapidly ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31815eba47

    authors: Seaborn T,St-Amand J,Cloutier M,Tremblay MG,Maltais F,Dinel S,Moulin V,Khan PA,Piedboeuf B

    更新日期:2008-02-01 00:00:00

  • Understanding the susceptibility of the premature infant to necrotizing enterocolitis (NEC).

    abstract::Necrotizing enterocolitis (NEC) is the most common life-threatening gastrointestinal emergency encountered in the neonatal intensive care unit. Despite advances in neonatal care, NEC remains a leading cause of morbidity and mortality among premature infants. Epidemiologic studies have identified multiple factors that ...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1203/PDR.0b013e31815ed64c

    authors: Hunter CJ,Upperman JS,Ford HR,Camerini V

    更新日期:2008-02-01 00:00:00

  • VEGF attenuates hyperoxic injury through decreased apoptosis in explanted rat embryonic lung.

    abstract::Ambient oxygen concentration and vascular endothelial growth factor (VEGF)-A are vital in lung development. Since hypoxia stimulates VEGF-A production and hyperoxia reduces it, we hypothesized that VEGF-A down-regulation by exposure of airways to hyperoxia may result in abnormal lung development. An established model ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31815b4857

    authors: Esquibies AE,Bazzy-Asaad A,Ghassemi F,Nishio H,Karihaloo A,Cantley LG

    更新日期:2008-01-01 00:00:00

  • Diminished phagocytosis-induced cell death (PICD) in neonatal monocytes upon infection with Escherichia coli.

    abstract::An imbalance in apoptosis or survival of immune cells plays an essential role in the pathophysiology of sepsis. Phagocytosis-induced cell death (PICD) is a common result of the pathogen-host cell interaction mediated by reactive oxygen species (ROS). Neonatal sepsis is frequently characterized by hyperinflammation. Co...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31815b8e9f

    authors: Gille C,Leiber A,Spring B,Kempf VA,Loeffler J,Poets CF,Orlikowsky TW

    更新日期:2008-01-01 00:00:00

  • Heart rate turbulence in children--age and heart rate relationships.

    abstract::Heart rate turbulence (HRT) is a chronotropic response of the sinus heart rhythm to ventricular premature beat (VPB). Children show decreasing heart rate together with the maturation of the autonomic nervous system. The aim of the research was to assess the relationship between HRT parameters, age, and heart rate and ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3181598836

    authors: Kowalewski M,Alifier M,Bochen D,Urban M

    更新日期:2007-12-01 00:00:00

  • No neuroprotective effect of erythropoietin under clinical treatment conditions in a rabbit model of Escherichia coli meningitis.

    abstract::Despite effective antibiotic treatment, neuronal injury is frequent among children and adults with bacterial meningitis resulting in a high rate of death and neurologic sequelae. The hematopoietic cytokine erythropoietin (EPO) provides neuroprotection in models of acute and chronic neurologic diseases. We studied whet...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e318159af7a

    authors: Spreer A,Gerber J,Hanssen M,Nau R

    更新日期:2007-12-01 00:00:00

  • Impact of nutrition on phenotype in CFTR-deficient mice.

    abstract::To elucidate the impact of nutrition in cystic fibrosis (CF), we compared the phenotypic traits of Cftr -/- mice fed either a lipid-enriched liquid diet (Peptamen) or a standard chow combined with polyethylenglycol osmotic laxative (PEG), two strategies commonly used to prevent intestinal obstruction in CF mice. Survi...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e318155a61d

    authors: Cottart CH,Bonvin E,Rey C,Wendum D,Bernaudin JF,Dumont S,Lasnier E,Debray D,Clément A,Housset C,Bonora M

    更新日期:2007-11-01 00:00:00

  • Lower insulin secretory response to glucose induced by artificial nutrition in children: prolonged and total parenteral nutrition.

    abstract::Long-term parenteral nutrition (TPN) in children is associated with sustained hyperinsulinemia due to a high nutriment infusion flow 12 h/24 h, with plausible lipotoxicity secondary to repeated lipid infusions and with changes in incretin hormone release. The aim of this study was to test whether long-term TPN can lea...

    journal_title:Pediatric research

    pub_type: 临床试验,杂志文章

    doi:10.1203/PDR.0b013e3181559d5c

    authors: Beltrand J,Colomb V,Marinier E,Daubrosse C,Alison M,Burcelin R,Cani PD,Chevenne D,Marchal CL

    更新日期:2007-11-01 00:00:00

  • Retinoic acid fails to reverse oligohydramnios-induced pulmonary hypoplasia in fetal rats.

    abstract::All-trans retinoic acid (ATRA) stimulates platelet-derived growth factor (PDGF)-A expression and enhances alveolarization in rat lungs. On d 16 of gestation, pregnant Sprague-Dawley rats were randomly assigned to either a retinoic acid group (intragastric ATRA at 10 mg/kg body weight) or a vehicle group. We punctured ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31815685b9

    authors: Chen CM,Chou HC,Wang LF,Lang YD,Yeh CY

    更新日期:2007-11-01 00:00:00

  • Toll-like receptor 2 polymorphism is associated with preterm birth.

    abstract::Evidence is increasing for a role of polymorphisms in maternal or fetal innate immune response genes in preterm birth. Toll-like receptors (TLRs) are important receptors in the innate immunity. The genotype distribution of two TLR2 single nucleotide polymorphisms (SNPs) and one TLR4 SNP were determined among 524 neona...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31813c9401

    authors: Krediet TG,Wiertsema SP,Vossers MJ,Hoeks SB,Fleer A,Ruven HJ,Rijkers GT

    更新日期:2007-10-01 00:00:00

  • Effects of podocyte injury on glomerular development.

    abstract::To study the effects of podocyte injury on glomerular maturation and underlying mechanisms of such effects, puromycin aminonucleoside (PAN) was given to neonatal mice at 1 d post partum (1 dpp). Mice with PAN injection had smaller kidney weight (KW) and body weight (BW) at all times and smaller KW/BW at 4, 8, and 12 d...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31813cbed1

    authors: Ma J,Rossini M,Yang HC,Zuo Y,Fogo AB,Ichikawa I

    更新日期:2007-10-01 00:00:00

  • Impact of norepinephrine and fluid on cerebral oxygenation in experimental hemorrhagic shock.

    abstract::Few data exist regarding resuscitation of hypovolemic shock in infants, and alternative strategies such as vasopressor therapy merit further evaluation. However, the effects of norepinephrine on cerebral perfusion and oxygenation during hemorrhagic shock in the pediatric population are still unclear. Eight anesthetize...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3181425858

    authors: Meybohm P,Renner J,Boening A,Cavus E,Gräsner JT,Grünewald M,Scholz J,Bein B

    更新日期:2007-10-01 00:00:00

  • Pulmonary hemodynamics in neonatal lambs resuscitated with 21%, 50%, and 100% oxygen.

    abstract::The effect of resuscitation with varying levels of O2 on pulmonary hemodynamics at birth is not well known. We hypothesized that the decrease in pulmonary vascular resistance (PVR) and subsequent response to pulmonary vasoconstrictors and vasodilators will differ following resuscitation with 21%, 50%, or 100% O2 for 3...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3180db29fe

    authors: Lakshminrusimha S,Russell JA,Steinhorn RH,Swartz DD,Ryan RM,Gugino SF,Wynn KA,Kumar VH,Mathew B,Kirmani K,Morin FC 3rd

    更新日期:2007-09-01 00:00:00

  • Mechanical ventilation down-regulates surfactant protein A and keratinocyte growth factor expression in premature rabbits.

    abstract::Surfactant-associated proteins (SP-A, SP-B, and SP-C) are critical for the endogenous function of surfactant. Keratinocyte growth factor (KGF) and vascular endothelial growth factor (VEGF) are key regulators of lung development. The objective of this study was to evaluate the effects of early mechanical ventilation on...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3181256aeb

    authors: Digeronimo RJ,Mustafa SB,Ryan RM,Sternberg ZZ,Ashton DJ,Seidner SR

    更新日期:2007-09-01 00:00:00

  • Heart rate variability: impact of differences in outlier identification and management strategies on common measures in three clinical populations.

    abstract::Heart rate variability (HRV) is reported increasingly in pediatric research, but different strategies used to identify and manage potential outlier beats impact HRV parameter values in adults and animals. Do they in pediatrics? To compare the impact of different strategies to identifying and managing outliers, we used...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e318123fbcc

    authors: Kemper KJ,Hamilton C,Atkinson M

    更新日期:2007-09-01 00:00:00

  • Cytokines in human colostrum and neonatal jaundice.

    abstract::Breast-fed infants have higher bilirubin levels than formula-fed infants, possibly because of variations in the composition of the breast milk. The aim of this study was to investigate whether there is a relationship between cytokine levels in the colostrum of nursing mothers and neonatal jaundice (NJ). Breast milk sa...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31809871c9

    authors: Zanardo V,Golin R,Amato M,Trevisanuto D,Favaro F,Faggian D,Plebani M

    更新日期:2007-08-01 00:00:00

  • Comprehensive genetic variant discovery in the surfactant protein B gene.

    abstract::Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants by comprehensive r...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3180a03232

    authors: Hamvas A,Wegner DJ,Carlson CS,Bergmann KR,Trusgnich MA,Fulton L,Kasai Y,An P,Mardis ER,Wilson RK,Cole FS

    更新日期:2007-08-01 00:00:00

  • 11-Beta hydroxysteroid dehydrogenase type 2 in human adult and fetal lung and its regulation by sex steroids.

    abstract::11-Beta hydroxysteroid dehydrogenase type 2 (HSD2) oxidizes the biologically active glucocorticoid (GC), cortisol, to inactive cortisone. We characterized HSD2 gene expression and activity in human adult and fetal lung tissues and in cultured fetal lung explants, and examined the potential regulation of HSD2 in the fe...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3180676cf3

    authors: Garbrecht MR,Klein JM,McCarthy TA,Schmidt TJ,Krozowski ZS,Snyder JM

    更新日期:2007-07-01 00:00:00

  • Differential expression of matrix metalloproteinases and inhibitors in developing rat lung mesenchymal and epithelial cells.

    abstract::Lung development requires extracellular matrix remodeling. This involves matrix metalloproteinases (MMPs) and their endogenous inhibitors [tissue inhibitors of metalloproteinases (TIMPs)]. Because these have been generally studied only in whole lung, we focused specifically on mesenchymal and epithelial cells freshly ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3180686cc5

    authors: Boucherat O,Bourbon JR,Barlier-Mur AM,Chailley-Heu B,D'Ortho MP,Delacourt C

    更新日期:2007-07-01 00:00:00

  • Obesity, metabolic syndrome, and cardiovascular disease.

    abstract::Early childhood overweight and obesity have alarmingly increased over the years. Adulthood obesity is a well demonstrated significant independent predictor of cardiovascular risk (CVR) and/or mortality, which predisposes to the major components of metabolic syndrome (MS). Evidence of MS in obese children has been also...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1203/pdr.0b013e31805d8a8c

    authors: Aggoun Y

    更新日期:2007-06-01 00:00:00

  • Effect of television viewing at mealtime on food intake after a glucose preload in boys.

    abstract::Television viewing (TVV) is considered a contributing factor to the development of childhood obesity yet it is unclear whether obesity results, in part, from increased energy intake during TVV. The objective of this study was to determine the effect of TVV on food intake (FI) of boys at a meal and its effect on calori...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e3180536591

    authors: Bellissimo N,Pencharz PB,Thomas SG,Anderson GH

    更新日期:2007-06-01 00:00:00

  • Effect of topical emollient treatment of preterm neonates in Bangladesh on invasion of pathogens into the bloodstream.

    abstract::Topical emollient therapy may reduce the incidence of serious infections and mortality of preterm infants in developing countries. We tested whether emollient therapy reduced the burden of pathogens on skin and/or prevented bacterial translocation. Neonates <33 wk gestational age were randomized to treatment with sunf...

    journal_title:Pediatric research

    pub_type: 杂志文章,随机对照试验

    doi:10.1203/pdr.0b013e3180459f75

    authors: Darmstadt GL,Saha SK,Ahmed AS,Choi Y,Chowdhury MA,Islam M,Law PA,Ahmed S

    更新日期:2007-05-01 00:00:00

  • Maternal stress during pregnancy predisposes for iron deficiency in infant monkeys impacting innate immunity.

    abstract::The influence of maternal stress during pregnancy on the postpartum iron status and immune maturation of infants was investigated in a nonhuman primate model. Forty infant rhesus monkeys were generated from two types of disturbed pregnancies, early or late gestation stress, and compared with 24 undisturbed controls. P...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e318045be53

    authors: Coe CL,Lubach GR,Shirtcliff EA

    更新日期:2007-05-01 00:00:00

  • Epigenetics of long-range chromatin interactions.

    abstract::DNA segments that are separated from the promoter region of a gene by many thousands of bases may nonetheless regulate the transcriptional activity of that gene. This finding has led to the investigation of mechanisms underlying long-range chromatin interactions. In intermitotic cells, chromosomes decondense, filling ...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1203/pdr.0b013e31804575db

    authors: Ling JQ,Hoffman AR

    更新日期:2007-05-01 00:00:00

  • Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome.

    abstract::To date, many mutations, including intronic nucleotide changes, in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) have been reported in Gitelman's syndrome (GS) patients. However, it has not been clarified whether intronic nucleotide changes affect mRNA content. Since mRNA analys...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e318031935a

    authors: Kaito H,Nozu K,Fu XJ,Kamioka I,Fujita T,Kanda K,Krol RP,Suminaga R,Ishida A,Iijima K,Matsuo M

    更新日期:2007-04-01 00:00:00

  • A comparison of high-dose recombinant erythropoietin treatment regimens in brain-injured neonatal rats.

    abstract::Recombinant human erythropoietin (rEpo) is neuroprotective in neonatal models of hypoxic-ischemic brain injury. However, the optimal rEpo dose, dosing interval, and number of doses for reducing brain injury are still undetermined. We compared the neuroprotective efficacy of several subcutaneous rEpo treatment regimens...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e3180332cec

    authors: Kellert BA,McPherson RJ,Juul SE

    更新日期:2007-04-01 00:00:00

  • Hypoxia induces alteration of bone morphogenetic protein receptor signaling in pulmonary artery endothelial cell.

    abstract::Reduced expression of bone morphogenetic protein receptors (BMPR) has been implicated in the pathogenesis of pulmonary hypertension (PH), but changes in the intracellular signaling pathway of BMPR have not been fully understood. We hypothesized that BMPR signaling in pulmonary endothelial cells is altered during the d...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e3180332cba

    authors: Takahashi K,Kogaki S,Matsushita T,Nasuno S,Kurotobi S,Ozono K

    更新日期:2007-04-01 00:00:00

  • Heat shock protein 72 (HSPA1B) gene polymorphism and Toll-like receptor (TLR) 4 mutation are associated with increased risk of urinary tract infection in children.

    abstract::Innate immunity and urinary tract response play a central role in the development of urinary tract infection (UTI). Heat shock protein (HSP) 72 and Toll-like receptor (TLR) 4 are among the key elements of innate defence mechanisms. This study assesses the role of HSPA1B A(1267)G and TLR4 A(896)G polymorphisms using al...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e318030d1f4

    authors: Karoly E,Fekete A,Banki NF,Szebeni B,Vannay A,Szabo AJ,Tulassay T,Reusz GS

    更新日期:2007-03-01 00:00:00

  • Proteomic biomarkers of intra-amniotic inflammation: relationship with funisitis and early-onset sepsis in the premature neonate.

    abstract::Our goal was to determine the relationship between 4 amniotic fluid (AF) proteomic biomarkers (human neutrophil defensins 2 and 1, calgranulins C and A) characteristic of intra-amniotic inflammation, and funisitis and early-onset sepsis in premature neonates. The mass restricted (MR) score was generated from AF obtain...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000252439.48564.37

    authors: Buhimschi CS,Buhimschi IA,Abdel-Razeq S,Rosenberg VA,Thung SF,Zhao G,Wang E,Bhandari V

    更新日期:2007-03-01 00:00:00

  • Prenatal pesticide and PCB exposures and birth outcomes.

    abstract::Evidence is inconsistent or poorly understood for links between polychlorinated biphenyls (PCBs), 1,1'-dichloro-2,2'-bis(4-chlorophenyl)ethylene (DDE), and organophosphate (OP) pesticides and adverse pregnancy outcomes, although they are known developmental toxicants. We measured biomarkers of maternal exposure to DDE...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e31802d77f0

    authors: Wolff MS,Engel S,Berkowitz G,Teitelbaum S,Siskind J,Barr DB,Wetmur J

    更新日期:2007-02-01 00:00:00

  • Dietary lecithin protects against cholestatic liver disease in cholic acid-fed Abcb4- deficient mice.

    abstract::Mutations in multidrug resistance 3 gene (MDR3 or ABCB4) underlie progressive familial intrahepatic cholestasis type 3 (PFIC3), a severe pediatric liver disease progressing to cirrhosis. Abcb4-/- mice exhibit slowly developing hepatic lesions that can be accelerated by feeding a cholic acid (CA)-supplemented diet. We ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e31802d7780

    authors: Lamireau T,Bouchard G,Yousef IM,Clouzeau-Girard H,Rosenbaum J,Desmoulière A,Tuchweber B

    更新日期:2007-02-01 00:00:00

  • Major determinants of height development in Turner syndrome (TS) patients treated with GH: analysis of 987 patients from KIGS.

    abstract::Little is known about factors determining height outcome during GH treatment in Turner syndrome (TS). We investigated 987 TS children within the Kabi International Growth Study (KIGS) who had reached near adult height (NAH) after >4 y GH treatment (including >1 y before puberty). Through multiple regression analysis w...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000250039.42000.c9

    authors: Ranke MB,Lindberg A,Ferrández Longás A,Darendeliler F,Albertsson-Wikland K,Dunger D,Cutfield WS,Tauber M,Wilton P,Wollmann HA,Reiter EO,KIGS International Board.

    更新日期:2007-01-01 00:00:00

  • Effect of neonatal exposure to genistein on bone metabolism in mice at adulthood.

    abstract::Infants fed soy-based infant formulas are exposed to high levels of genistein, an isoflavone, with potential estrogen-like activity. This study determined whether neonatal exposure of mice to genistein resulted in higher bone mineral density (BMD) and greater resistance to fracture at adulthood. Male and female CD-1 m...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000250200.94611.03

    authors: Piekarz AV,Ward WE

    更新日期:2007-01-01 00:00:00

  • Altered postnatal lung development in C3H/HeJ mice.

    abstract::C3H/HeJ mice develop an increase in terminal air space area detectable by postnatal d 14 that persists into adulthood compared with strain-matched controls (C3H/SnJ, C3H/OuJ). Morphometric quantification revealed a 50% increase in terminal air space area by postnatal d 14 and a 2.3-fold increase by 2 mo of age in C3H/...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000246071.50268.51

    authors: Sampath V,Davis K,Senft AP,Richardson TR,Kitzmiller JA,Berclaz PY,Korfhagen TR

    更新日期:2006-12-01 00:00:00

  • Growth trajectories of extremely low birth weight infants from birth to young adulthood: a longitudinal, population-based study.

    abstract::We compared sex-specific growth attainment of a population-based cohort of 147/166 (89%) extremely low birthweight (ELBW < 1000 g) and 131/145 (90%) sociodemographically comparable normal birthweight (NBW) cohort at young adulthood, and examined the pattern of growth trajectories and correlates of growth at ages 1, 2,...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000246201.93662.8e

    authors: Saigal S,Stoskopf B,Streiner D,Paneth N,Pinelli J,Boyle M

    更新日期:2006-12-01 00:00:00

  • Influence of genetic polymorphisms on bone disease of preterm infants.

    abstract::Bone disease is an important complication among very low birth weight (VLBW, <1500 g) infants. In adults, osteoporosis is associated with polymorphisms of vitamin D receptor (VDR), estrogen receptor (ER), and collagen Ialpha1 (COLIA1) genes. However, limited information is available regarding the role of these polymor...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000242340.45676.5d

    authors: Funke S,Morava E,Czakó M,Vida G,Ertl T,Kosztolányi G

    更新日期:2006-11-01 00:00:00

  • Effect of TNF-alpha on CD3-zeta and MHC-I in postnatal rat hippocampus.

    abstract::The zeta subunit of the CD3 T-cell receptor complex and the major histocompatibility complex class 1 (MHC-I) are important not only for the immune response to antigens, they also function as signal molecules in the brain, where they play a role in the postnatal maturation process. The expression of these molecules can...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000238246.74817.a0

    authors: Sourial-Bassillious N,Eklöf AC,Scott L,Aperia A,Zelenin S

    更新日期:2006-10-01 00:00:00

  • Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome.

    abstract::This study characterizes cardiorespiratory dysregulation in young girls with MECP2 mutation-confirmed Rett syndrome (RS). Respiratory inductance plethysmography of chest/abdomen and ECG was obtained during daytime wakefulness in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched cont...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000238302.84552.d0

    authors: Weese-Mayer DE,Lieske SP,Boothby CM,Kenny AS,Bennett HL,Silvestri JM,Ramirez JM

    更新日期:2006-10-01 00:00:00

  • Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

    abstract::The primary manifestations of Pompe disease are muscle weakness and cardiomyopathy. Although accumulation of glycogen has also been seen in the nervous system in patients, the significance of brain involvement in infantile-onset Pompe disease is not clear. In this study, brain development in five cases of infantile-on...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000233014.84318.4e

    authors: Chien YH,Lee NC,Peng SF,Hwu WL

    更新日期:2006-09-01 00:00:00

  • Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

    abstract::The isobutyryl-CoA dehydrogenase (IBD) enzyme is involved in the degradation of valine. IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD, as the gene responsible for IBD deficiency. Only three individuals homozygous or compound heterozy...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000233085.72522.04

    authors: Pedersen CB,Bischoff C,Christensen E,Simonsen H,Lund AM,Young SP,Koeberl DD,Millington DS,Roe CR,Roe DS,Wanders RJ,Ruiter JP,Keppen LD,Stein Q,Knudsen I,Gregersen N,Andresen BS

    更新日期:2006-09-01 00:00:00

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