14 Result(s)
within
Andreas Schulze
Medicine & Public Health
English
Human Genetics
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Living Reference Work Entry In depth
Arginase Deficiency
Arginase deficiency is caused by biallelic pathogenic variants of ARG1 gene. Arginase 1 deficiency results in hepatic accumulation of intracellular arginine and release of excess arginine into the blood, which...
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Chapter
Disorders of Creatine Metabolism
Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary creatine disorders (cerebral creatine deficiency syndromes types 1–3: X-linked creatine transporter (CrT/SLC6A...
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Article
Open AccessUrine 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.
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Open AccessEvaluation 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...
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Article
Open AccessOutcomes 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....
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Article
Open AccessMudd’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...
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Open AccessPrevalence 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.
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Creatine Disorders
Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary (AGAT, GAMT, X-linked creatine transporter (SLC6A8) deficiency) and secondary (OAT deficiency) creatine disord...
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Creatine and Creatine Kinase in Health and Disease – A Bright Future Ahead?
Many links are reported or suspected between the functioning of creatine, phosphocreatine, the creatine kinase isoenzymes or the creatine biosynthesis enzymes on one hand, and health or disease on the other ha...
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Pre-Symptomatic Treatment of Creatine Biosynthesis Defects
Recent observations in two patients, one with AGAT deficiency (AGAT-D) and one with GAMT deficiency (GAMT-D), both diagnosed already at birth, provide first evidence for important therapeutic effects of pre-sy...
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Disorders of Ornithine, Lysine, and Tryptophan
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Chapter
Disorders of Creatine Metabolism
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Article
Pregnancy complications, obstetric risks, and neonatal outcome in singleton and twin pregnancies after GIFT and IVF
In vitro fertilization (IVF) and to a lower extent gamete intra-fallopian transfer (GIFT) have become routine infertility treatments in industrialized countries. Our purpose is to compare the obstetric and neo...
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Article
Maternal and neonatal morbidity of emergency caesarean sections with a decision-to-delivery interval under 30 minutes: evidence from 10 years
The purpose was to investigate the decision-to-delivery interval for emergency caesarean section and to compare the perioperative maternal and neonatal morbidity to that of intrapartum non-emergent caesarean s...
