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  1. Article ; Online: When to Suspect and How to Diagnose Mitochondrial Disorders?

    Korenev, Sergei / Morris, Andrew A M

    Indian journal of pediatrics

    2016  Volume 83, Issue 10, Page(s) 1157–1163

    Abstract: Disorders of the mitochondrial respiratory chain are an exceedingly diverse group. The clinical features can affect any tissue or organ and occur at any age, with any mode of inheritance. The diagnosis of mitochondrial disorders requires knowledge of the ...

    Abstract Disorders of the mitochondrial respiratory chain are an exceedingly diverse group. The clinical features can affect any tissue or organ and occur at any age, with any mode of inheritance. The diagnosis of mitochondrial disorders requires knowledge of the clinical phenotypes and access to a wide range of laboratory techniques. A few syndromes are associated with a specific genetic defect and in these cases it is appropriate to proceed directly to an appropriate test of blood or urine. In most cases, however, the best strategy starts with biochemical and histochemical studies on a muscle biopsy. Appropriate molecular genetic studies can then be chosen, based on these results and the clinical picture. Unfortunately, there is currently limited availability of respiratory chain studies in India. Exome sequencing is undertaken increasingly often; without preceding mitochondrial studies, this can lead to misleading results.
    Language English
    Publishing date 2016-10
    Publishing country India
    Document type Journal Article ; Review
    ZDB-ID 218231-2
    ISSN 0973-7693 ; 0019-5456
    ISSN (online) 0973-7693
    ISSN 0019-5456
    DOI 10.1007/s12098-015-1932-y
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  2. Article: Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

    Puente-Ruiz, Nuria / Ellis, Ian / Bregu, Marsel / Chen, Cliff / Church, Heather J / Tylee, Karen L / Gladston, Shalini / Hackett, Richard / Oldham, Andrew / Virk, Surinder / Hendriksz, Christian / Morris, Andrew A M / Jones, Simon A / Stepien, Karolina M

    Molecular genetics and metabolism reports

    2023  Volume 37, Page(s) 101009

    Abstract: Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in ... ...

    Abstract Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the
    Language English
    Publishing date 2023-09-27
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2023.101009
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  3. Article ; Online: Recognition, assessment and management of hypoglycaemia in childhood.

    Ghosh, Arunabha / Banerjee, Indraneel / Morris, Andrew A M

    Archives of disease in childhood

    2015  Volume 101, Issue 6, Page(s) 575–580

    Abstract: Hypoglycaemia is frequent in children and prompt management is required to prevent brain injury. In this article we will consider hypoglycaemia in children after the neonatal period. The most common causes are diabetes mellitus and idiopathic ketotic ... ...

    Abstract Hypoglycaemia is frequent in children and prompt management is required to prevent brain injury. In this article we will consider hypoglycaemia in children after the neonatal period. The most common causes are diabetes mellitus and idiopathic ketotic hypoglycaemia (IKH) but a number of endocrine disorders and inborn errors of metabolism (IEMs) need to be excluded. Elucidation of the diagnosis relies primarily on investigations during a hypoglycaemic episode but may also involve biochemical tests between episodes, dynamic endocrine tests and molecular genetics. Specific treatment such as cortisol replacement and pancreatic surgery may be required for endocrine causes of hypoglycaemia, such as adrenal insufficiency and congenital hyperinsulinism. In contrast, in IKH and most IEMs, hypoglycaemia is prevented by limiting the duration of fasting and maintaining a high glucose intake during illnesses.
    MeSH term(s) Blood Glucose/metabolism ; Clinical Laboratory Techniques ; Diagnosis, Differential ; Early Diagnosis ; Emergency Treatment ; Fatty Acids/metabolism ; Glucose/therapeutic use ; Glycogen/biosynthesis ; Glycogen/metabolism ; Homeostasis/physiology ; Humans ; Hyperinsulinism/complications ; Hyperinsulinism/drug therapy ; Hypoglycemia/diagnosis ; Hypoglycemia/drug therapy ; Hypoglycemia/etiology ; Infection/complications ; Ketone Bodies/metabolism ; Liver Failure/complications ; Medical History Taking/methods ; Physical Examination/methods
    Chemical Substances Blood Glucose ; Fatty Acids ; Ketone Bodies ; Glycogen (9005-79-2) ; Glucose (IY9XDZ35W2)
    Language English
    Publishing date 2015-12-30
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 524-1
    ISSN 1468-2044 ; 0003-9888 ; 1359-2998
    ISSN (online) 1468-2044
    ISSN 0003-9888 ; 1359-2998
    DOI 10.1136/archdischild-2015-308337
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  4. Article: Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

    Seker Yilmaz, Berna / Baruteau, Julien / Chakrapani, Anupam / Champion, Michael / Chronopoulou, Efstathia / Claridge, Lee C / Daly, Anne / Davies, Catherine / Davison, James / Dhawan, Anil / Grunewald, Stephanie / Gupte, Girish L / Heaton, Nigel / Lemonde, Hugh / McKiernan, Pat / Mills, Philippa / Morris, Andrew A M / Mundy, Helen / Pierre, Germaine /
    Rajwal, Sanjay / Sivananthan, Siyamini / Sreekantam, Srividya / Stepien, Karolina M / Vara, Roshni / Yeo, Mildrid / Gissen, Paul

    Molecular genetics and metabolism reports

    2023  Volume 37, Page(s) 101020

    Abstract: Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT) is ...

    Abstract Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT) is the only curative therapy, but has several limitations including organ shortage, significant morbidity and requirement of lifelong immunosuppression. This study aims to identify the characteristics and outcomes of patients who underwent LT for OTCD. We conducted a retrospective study for OTCD patients from 5 UK centres receiving LT in 3 transplantation centres between 2010 and 2022. Patients' demographics, family history, initial presentation, age at LT, graft type and pre- and post-LT clinical, metabolic, and neurocognitive profile were collected from medical records. A total of 20 OTCD patients (11 males, 9 females) were enrolled in this study. 6/20 had neonatal and 14/20 late-onset presentation. 2/20 patients had positive family history for OTCD and one of them was diagnosed antenatally and received prospective treatment. All patients were managed with standard of care based on protein-restricted diet, ammonia scavengers and supplementation with arginine and/or citrulline before LT. 15/20 patients had neurodevelopmental problems before LT. The indication for LT was presence (or family history) of recurrent metabolic decompensations occurring despite standard medical therapy leading to neurodisability and quality of life impairment. Median age at LT was 10.5 months (6-24) and 66 months (35-156) in neonatal and late onset patients, respectively. 15/20 patients had deceased donor LT (DDLT) and 5/20 had living related donor LT (LDLT). Overall survival was 95% with one patient dying 6 h after LT. 13/20 had complications after LT and 2/20 patients required re-transplantation. All patients discontinued dietary restriction and ammonia scavengers after LT and remained metabolically stable. Patients who had neurodevelopmental problems before LT persisted to have difficulties after LT. 1/5 patients who was reported to have normal neurodevelopment before LT developed behavioural problems after LT, while the remaining 4 maintained their abilities without any reported issues. LT was found to be effective in correcting the metabolic defect, eliminates the risk of hyperammonemia and prolongs patients' survival.
    Language English
    Publishing date 2023-11-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2023.101020
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  5. Article ; Online: Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

    Elkhateeb, Nour / Olivieri, Giorgia / Siri, Barbara / Boyd, Stewart / Stepien, Karolina M / Sharma, Reena / Morris, Andrew A M / Hartley, Thomas / Crowther, Laura / Grunewald, Stephanie / Cleary, Maureen / Mundy, Helen / Chakrapani, Anupam / Lachmann, Robin / Murphy, Elaine / Santra, Saikat / Uudelepp, Mari-Liis / Yeo, Mildrid / Bernhardt, Isaac /
    Sudakhar, Sniya / Chan, Alicia / Mills, Philippa / Ridout, Debora / Gissen, Paul / Dionisi-Vici, Carlo / Baruteau, Julien

    Epilepsia

    2023  Volume 64, Issue 6, Page(s) 1612–1626

    Abstract: Objective: Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, the second most common urea ... ...

    Abstract Objective: Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, the second most common urea cycle defect and an inherited model of systemic nitric oxide deficiency. Patients present with developmental delay, epilepsy, and movement disorder. Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria.
    Methods: We conducted a retrospective study in seven tertiary metabolic centers in the UK, Italy, and Canada from 2020 to 2022, to assess the phenotype of epilepsy in argininosuccinic aciduria and correlate it with clinical, biochemical, radiological, and electroencephalographic data.
    Results: Thirty-seven patients, 1-31 years of age, were included. Twenty-two patients (60%) presented with epilepsy. The median age at epilepsy onset was 24 months. Generalized tonic-clonic and focal seizures were most common in early-onset patients, whereas atypical absences were predominant in late-onset patients. Seventeen patients (77%) required antiseizure medications and six (27%) had pharmacoresistant epilepsy. Patients with epilepsy presented with a severe neurodebilitating disease with higher rates of speech delay (p = .04) and autism spectrum disorders (p = .01) and more frequent arginine supplementation (p = .01) compared to patients without epilepsy. Neonatal seizures were not associated with a higher risk of developing epilepsy. Biomarkers of ureagenesis did not differ between epileptic and non-epileptic patients. Epilepsy onset in early infancy (p = .05) and electroencephalographic background asymmetry (p = .0007) were significant predictors of partially controlled or refractory epilepsy.
    Significance: Epilepsy in argininosuccinic aciduria is frequent, polymorphic, and associated with more frequent neurodevelopmental comorbidities. We identified prognostic factors for pharmacoresistance in epilepsy. This study does not support defective ureagenesis as prominent in the pathophysiology of epilepsy but suggests a role of central dopamine deficiency. A role of arginine in epileptogenesis was not supported and warrants further studies to assess the potential arginine neurotoxicity in argininosuccinic aciduria.
    MeSH term(s) Humans ; Argininosuccinic Aciduria/complications ; Argininosuccinic Aciduria/genetics ; Argininosuccinic Aciduria/metabolism ; Retrospective Studies ; Nitric Oxide ; Arginine/metabolism ; Arginine/therapeutic use ; Epilepsy/complications ; Epilepsy/epidemiology ; Epilepsy/drug therapy ; Urea ; Seizures/drug therapy
    Chemical Substances Nitric Oxide (31C4KY9ESH) ; Arginine (94ZLA3W45F) ; Urea (8W8T17847W)
    Language English
    Publishing date 2023-04-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17596
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  6. Article ; Online: Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

    Kožich, Viktor / Sokolová, Jitka / Morris, Andrew A M / Pavlíková, Markéta / Gleich, Florian / Kölker, Stefan / Krijt, Jakub / Dionisi-Vici, Carlo / Baumgartner, Matthias R / Blom, Henk J / Huemer, Martina

    Journal of inherited metabolic disease

    2020  Volume 44, Issue 3, Page(s) 677–692

    Abstract: Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have ... ...

    Abstract Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient-years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine-responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long-term complications.
    MeSH term(s) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cystathionine beta-Synthase/deficiency ; Delayed Diagnosis ; Europe ; Female ; Homocystinuria/diagnosis ; Homocystinuria/drug therapy ; Homocystinuria/enzymology ; Humans ; Infant ; Linear Models ; Male ; Methionine/blood ; Middle Aged ; Phenotype ; Pyridoxine/therapeutic use ; Registries ; Severity of Illness Index ; Young Adult
    Chemical Substances Methionine (AE28F7PNPL) ; Cystathionine beta-Synthase (EC 4.2.1.22) ; Pyridoxine (KV2JZ1BI6Z)
    Language English
    Publishing date 2020-12-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12338
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  7. Article ; Online: Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.

    Ghosh, Arunabha / Urquhart, Jill / Daly, Sarah / Ferguson, Anne / Scotcher, Diana / Morris, Andrew A M / Clayton-Smith, Jill

    Journal of child neurology

    2017  Volume 32, Issue 6, Page(s) 560–565

    Abstract: STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation ... ...

    Abstract STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures. Two individuals also developed episodic hypothermia and altered consciousness. The family were investigated by autozygosity mapping, which revealed both a homozygous region containing STT3A and, in addition, a homozygous deletion of TUSC3 in one child. A likely pathogenic variant in STT3A was confirmed on Sanger sequencing of all affected individuals: the authors discuss the molecular findings in detail and further delineate the clinical phenotype of this rare disorder.
    MeSH term(s) Adolescent ; Adult ; Child ; Congenital Disorders of Glycosylation/diagnostic imaging ; Congenital Disorders of Glycosylation/genetics ; Electroencephalography ; Family Health ; Female ; Hexosyltransferases/genetics ; Homozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Membrane Proteins/genetics ; Polymorphism, Single Nucleotide/genetics ; Young Adult
    Chemical Substances Membrane Proteins ; Hexosyltransferases (EC 2.4.1.-) ; STT3A protein, human (EC 2.4.99.18)
    Language English
    Publishing date 2017-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639288-x
    ISSN 1708-8283 ; 0883-0738
    ISSN (online) 1708-8283
    ISSN 0883-0738
    DOI 10.1177/0883073817696816
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  8. Article ; Online: Postauthorization safety study of betaine anhydrous.

    Mütze, Ulrike / Gleich, Florian / Garbade, Sven F / Plisson, Céline / Aldámiz-Echevarría, Luis / Arrieta, Francisco / Ballhausen, Diana / Zielonka, Matthias / Petković Ramadža, Danijela / Baumgartner, Matthias R / Cano, Aline / García Jiménez, María Concepción / Dionisi-Vici, Carlo / Ješina, Pavel / Blom, Henk J / Couce, Maria Luz / Meavilla Olivas, Silvia / Mention, Karine / Mochel, Fanny /
    Morris, Andrew A M / Mundy, Helen / Redonnet-Vernhet, Isabelle / Santra, Saikat / Schiff, Manuel / Servais, Aude / Vitoria, Isidro / Huemer, Martina / Kožich, Viktor / Kölker, Stefan

    Journal of inherited metabolic disease

    2022  Volume 45, Issue 4, Page(s) 719–733

    Abstract: Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public ... ...

    Abstract Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public private partnership (PPP) between the European network and registry for homocystinurias and methylation defects and the marketing authorization holder (MAH). Data were prospectively collected, 2013-2016, in a noninterventional, international, multicenter, registry study. Putative adverse and severe adverse events were reported to the MAH's pharmacovigilance. In total, 130 individuals with vitamin B
    MeSH term(s) Betaine/adverse effects ; Cystathionine beta-Synthase ; Homocysteine ; Homocystinuria/drug therapy ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2)/deficiency ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics ; Muscle Spasticity ; Psychotic Disorders
    Chemical Substances Homocysteine (0LVT1QZ0BA) ; Betaine (3SCV180C9W) ; Methylenetetrahydrofolate Reductase (NADPH2) (EC 1.5.1.20) ; Cystathionine beta-Synthase (EC 4.2.1.22)
    Language English
    Publishing date 2022-04-06
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12499
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  9. Article: Diagnosis and early management of inborn errors of metabolism presenting around the time of birth.

    Leonard, James V / Morris, Andrew A M

    Acta paediatrica (Oslo, Norway : 1992)

    2006  Volume 95, Issue 1, Page(s) 6–14

    Abstract: Unlabelled: Inherited metabolic diseases often present around the time of birth. They are responsible for some cases of hydrops fetalis and a number of dysmorphic syndromes. Patients with inborn errors may also present at (or shortly after) birth with ... ...

    Abstract Unlabelled: Inherited metabolic diseases often present around the time of birth. They are responsible for some cases of hydrops fetalis and a number of dysmorphic syndromes. Patients with inborn errors may also present at (or shortly after) birth with seizures or severe hypotonia. Most affected babies, however, appear normal at birth and subsequently deteriorate, with hypoglycaemia, acidosis, neurological or cardiac problems, or liver disease. Treatment often involves measures to reduce catabolism and to remove toxic metabolites. It should not be delayed for a definitive diagnosis.
    Conclusion: In the newborn period, inborn errors can easily be misdiagnosed as sepsis or birth asphyxia; prompt detection requires vigilance and the early measurement of biochemical markers, such as plasma ammonia.
    MeSH term(s) Female ; Humans ; Infant, Newborn ; Metabolism, Inborn Errors/complications ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/physiopathology ; Metabolism, Inborn Errors/therapy ; Pregnancy ; Prenatal Diagnosis
    Language English
    Publishing date 2006-01
    Publishing country Norway
    Document type Journal Article ; Review
    ZDB-ID 203487-6
    ISSN 1651-2227 ; 0803-5253 ; 0365-1436
    ISSN (online) 1651-2227
    ISSN 0803-5253 ; 0365-1436
    DOI 10.1080/08035250500349413
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  10. Article ; Online: Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

    van Vliet, Kimber / van Ginkel, Willem G / Jahja, Rianne / Daly, Anne / MacDonald, Anita / De Laet, Corinne / Vara, Roshni / Rahman, Yusof / Cassiman, David / Eyskens, Francois / Timmer, Corrie / Mumford, Nicky / Bierau, Jörgen / van Hasselt, Peter M / Gissen, Paul / Goyens, Philippe J / McKiernan, Patrick J / Wilcox, Gisela / Morris, Andrew A M /
    Jameson, Elisabeth A / Huijbregts, Stephan C J / van Spronsen, Francjan J

    Orphanet journal of rare diseases

    2019  Volume 14, Issue 1, Page(s) 285

    Abstract: Background: Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is ... ...

    Abstract Background: Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations.
    Results: Thirty-one TT1 patients (19 males; mean age 13.9 ± 5.3 years) were included in this study. Emotional and behavioral problems, as measured by the Achenbach System of Empirically Based Assessment, were present in almost all domains. Attention and thought problems were particularly evident. HR-QoL was assessed by the TNO AZL Children's and Adults QoL questionnaires. Poorer HR-QoL as compared to reference populations was observed for the domains: independent daily functioning, cognitive functioning and school performance, social contacts, motor functioning, and vitality. Both internalizing and externalizing behavior problems were associated with low phenylalanine (and associated lower tyrosine) concentrations during the first year of life. In contrast, high tyrosine (and associated higher phenylalanine) concentrations during life and specifically the last year before testing were associated with more internalizing behavior and/or HR-QoL problems.
    Conclusions: TT1 patients showed several behavior problems and a lower HR-QoL. Associations with metabolic control differed for different age periods. This suggests the need for continuous fine-tuning and monitoring of dietary treatment to keep phenylalanine and tyrosine concentrations within target ranges in NTBC-treated TT1 patients.
    MeSH term(s) Adolescent ; Adult ; Child ; Cyclohexanones/therapeutic use ; Humans ; Male ; Nitrobenzoates/therapeutic use ; Phenylalanine/blood ; Quality of Life ; Tyrosine/blood ; Tyrosinemias/blood ; Tyrosinemias/drug therapy ; Young Adult
    Chemical Substances Cyclohexanones ; Nitrobenzoates ; Tyrosine (42HK56048U) ; Phenylalanine (47E5O17Y3R) ; nitisinone (K5BN214699)
    Language English
    Publishing date 2019-12-04
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-019-1259-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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