34 Result(s)

Article

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.

Shalini Bahl, Dawn Cordeiro, Lauren MacNeil… in Orphanet Journal of Rare Diseases (2020)

Article

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims...

Kylie Tingley, Monica Lamoureux, Michael Pugliese… in Orphanet Journal of Rare Diseases (2020)

Article

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....

Michael Pugliese, Kylie Tingley, Andrea Chow… in Orphanet Journal of Rare Diseases (2020)

Article

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys

Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of ther...

Beth K. Potter, Brian Hutton, Tammy J. Clifford, Nicole Pallone, Maureen Smith… in Trials (2017)

Article

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subuni...

Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio… in Orphanet Journal of Rare Diseases (2015)

Article

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders.

Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland… in Orphanet Journal of Rare Diseases (2015)

Article

Effect of Body Temperature on the Pattern of Spontaneous Breathing in Extremely Low Birth Weight Infants Supported by Proportional Assist Ventilation

The optimum body temperature for infants <1000 g is unknown. We investigated body temperature effects on spontaneous breathing using proportional assist ventilation (PAV), because this mode supports spontaneou...

Esther Rieger-Fackeldey, Susanne Schaller-Bals, Andreas Schulze in Pediatric Research (2003)

Article

Acylcarnitine Profiles of Preterm Infants Over the First Four Weeks of Life

Measurement of free carnitine and acylcarnitines allows the detection of several inborn errors of metabolism in neonatal screening. Because available data for premature infants is limited, we studied longitudi...

Jochen Meyburg, Andreas Schulze, Dirk Kohlmueller, Johannes Pöschl… in Pediatric Research (2002)

Article

Spontaneous Breathing during Partial Liquid Ventilation in Animals with Meconium Aspiration

Partial liquid ventilation (PLV) has been shown to improve gas exchange in paralyzed animals and humans with lung disease. The present study tests the hypothesis that PLV improves gas exchange in spontaneously...

Helmut D Hummler, Ulrich Thome, Andreas Schulze, Rolf Schnabel… in Pediatric Research (2001)

Article

Inductance Plethysmography: An Alternative Signal to Servocontrol the Airway Pressure during Proportional Assist Ventilation in Small Animals

During proportional assist ventilation (PAV), the ventilator pressure is servocontrolled throughout each spontaneous inspiration such that it instantaneously increases in proportion to the airflow (resistive u...

Andreas Schulze, Cleide Suguihara, Tilo Gerhardt, Peter Schaller… in Pediatric Research (2001)

Article

Proportional Assist Ventilation Decreases Thoracoabdominal Asynchrony and Chest Wall Distortion in Preterm Infants

Thoracoabdominal asynchrony (TAA) and chest wall distortion (CWD) are commonly seen in preterm infants secondary to a highly compliant rib cage and poor compensation of distorting forces by inspiratory rib cag...

Gabriel Musante, Andreas Schulze, Tilo Gerhardt, Ruth Everett… in Pediatric Research (2001)

Article

Postnatal Changes in Neonatal Acylcarnitine Profile

Electrospray-tandem mass spectrometry represents a powerful method for detection of inborn errors of fatty acid metabolism. In the present study, it was used to examine neonatal carnitine metabolism, which ref...

Jochen Meyburg, Andreas Schulze, Dirk Kohlmueller, Otwin Linderkamp… in Pediatric Research (2001)

Article

Dynamics of Breathing during Partial Liquid Ventilation in Spontaneously Breathing Rabbits Supported by Elastic and Resistive Unloading

Partial liquid ventilation (PLV) has been shown to improve gas exchange in paralyzed animals and in humans with lung disease. This study tests the hypothesis that PLV combined with respiratory mechanical unloa...

Helmut D Hummler, Andreas Schulze, Frank Pohlandt, Ulrich Thome in Pediatric Research (2000)

Article

Spontaneous Breathing during Partial Liquid Ventilation (PLV): Ventilation, Gas Exchange and Hemodynamics in Animals with Meconium Aspiration Syndrome (MAS) Supported by Elastic and Resistive Unloading

Helmut Hummler, Axel R, Andreas Schulze, Frank Pohlandt in Pediatric Research (1999)

Article

Perfluorocarbon (PFC) Instillation Improves Oxygenation during Proportional Assist Ventilation (PAV) in Severely Surfactant-Depleted Spontaneously Breathing Rabbits

Ulrich Thome, Helmut Hummler, Andreas Schulze, Frank Pohlandt in Pediatric Research (1998)

Article

Partial Liquid Ventilation (PLV) combined with Proportional Assist Ventilation (PAV) in spontaneously breathing animals

Helmut Hummler, Ulrich Thome, Andreas Schulze, Frank Pohlandt in Pediatric Research (1998)

Article

Effects of Different Gain Settings during Assisted Mechanical Ventilation Using Respiratory Unloading in Rabbits

Compared with conventional modes of patient-initiated mechanical ventilation, respiratory mechanical unloading aims at improving the match between ventilator pressure profiles and the specific derangements in ...

Andreas Schulze, Wade Rich, Larry Schellenberg, Peter Schaller… in Pediatric Research (1998)

Article

Partial Liquid Ventilation (PLV) combined with Proportional Assist Ventilation (PAV) in Spontaneously Breathing Animals: Follow-up of Gas Exchange and Survival over a Four Week Period in a Rabbit Model 1673

Helmut Hummler, Ulrich Thome, Andreas Schulze, Frank Pohlandt in Pediatric Research (1998)

Article

Perfluorocarbon (PFC) Improves Oxygenation in Severely Surfactant-Depleted Spontaneously Breathing Rabbits maintained on Proportional Assist Ventilation(PAV) 1760

Ulrich Thome, Helmut Hummler, Andreas Schulze, Frank Pohlandt in Pediatric Research (1998)

Article

Effects of Partial Liquid Ventilation (PLV) on Ventilation, Respiratory Drive, Gas Exchange, Heart Rate (HR) and Arterial Blood Pressure (ABP) in Spontaneously Breathing Animals supported with Proportional Assist Ventilation (PAV) 1672

Helmut Hummler, Ulrich Thome, Andreas Schulze, Frank Pohlandt in Pediatric Research (1998)