LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 85

Search options

  1. Article ; Online: The cause of eyelid ptosis, orthostatic hypotension and exercise intolerance.

    Monnens, Leo

    Acta paediatrica (Oslo, Norway : 1992)

    2022  Volume 111, Issue 6, Page(s) 1134–1136

    Abstract: To provide more insight in the delay in diagnosis and expectation of treatment adapted for the paediatrician, the data were collected from patients described with dopamine beta-hydroxylase deficiency are evaluated. More insight in clinical features of ... ...

    Abstract To provide more insight in the delay in diagnosis and expectation of treatment adapted for the paediatrician, the data were collected from patients described with dopamine beta-hydroxylase deficiency are evaluated. More insight in clinical features of dopamine beta-hydroxylase deficiency consisting mainly of eyelid ptosis, orthostatic hypotension, hypoglycaemia and exercise intolerance, explains the delay in diagnosis of this congenital disorder, although all symptoms some more concealed are present. An increasing experience by L-DOPS, a resurrection for the patient, allows recommendations for early treatment. An explanation for the delay in diagnosis is provided together with the advice for treatment.
    MeSH term(s) Autonomic Nervous System Diseases/complications ; Blepharoptosis/complications ; Blepharoptosis/etiology ; Dopamine beta-Hydroxylase/deficiency ; Droxidopa/therapeutic use ; Humans ; Hypotension, Orthostatic/diagnosis ; Hypotension, Orthostatic/drug therapy ; Hypotension, Orthostatic/etiology ; Norepinephrine/deficiency ; Norepinephrine/therapeutic use
    Chemical Substances Dopamine beta-Hydroxylase (EC 1.14.17.1) ; Droxidopa (J7A92W69L7) ; Norepinephrine (X4W3ENH1CV)
    Language English
    Publishing date 2022-03-09
    Publishing country Norway
    Document type Journal Article
    ZDB-ID 203487-6
    ISSN 1651-2227 ; 0365-1436 ; 0803-5253
    ISSN (online) 1651-2227
    ISSN 0365-1436 ; 0803-5253
    DOI 10.1111/apa.16312
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Um IV Zs.95: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Still a vigilant attitude required to prevent hypomagnesemia.

    Monnens, Leo

    Acta paediatrica (Oslo, Norway : 1992)

    2020  Volume 110, Issue 5, Page(s) 1690

    MeSH term(s) Child ; Child, Preschool ; Humans ; Magnesium ; Microbiota ; Proton Pump Inhibitors
    Chemical Substances Proton Pump Inhibitors ; Magnesium (I38ZP9992A)
    Language English
    Publishing date 2020-10-13
    Publishing country Norway
    Document type Journal Article ; Comment
    ZDB-ID 203487-6
    ISSN 1651-2227 ; 0365-1436 ; 0803-5253
    ISSN (online) 1651-2227
    ISSN 0365-1436 ; 0803-5253
    DOI 10.1111/apa.15589
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Um IV Zs.95: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.

    Kömhoff, Martin / Gracchi, Valentina / Dijkman, Henry / Beck, Bodo B / Monnens, Leo

    Pediatric nephrology (Berlin, Germany)

    2023  Volume 39, Issue 1, Page(s) 125–129

    Abstract: Background: RMND1 is a nuclear gene needed for proper function of mitochondria. A pathogenic gene will cause multiple oxidative phosphorylation defects. A renal phenotype consisting of hyponatremia, hyperkalemia, and acidosis is frequently reported, ... ...

    Abstract Background: RMND1 is a nuclear gene needed for proper function of mitochondria. A pathogenic gene will cause multiple oxidative phosphorylation defects. A renal phenotype consisting of hyponatremia, hyperkalemia, and acidosis is frequently reported, previously considered to be due to aldosterone insensitivity.
    Methods: Clinical features and pathophysiology of three patients will be reported. DNA of these patients was subjected to exome screening.
    Results: In the first family, one pathogenic heterozygous and one highly probable heterozygous mutation were detected. In the second family, a homozygous pathogenic mutation was present. The electrolyte disbalance was not due to aldosterone insensitivity but to low plasma aldosterone concentration, a consequence of low plasma renin activity. This disbalance can be treated. In all three patients, the kidney function declined. In the first family, both children suffered from an unexplained arterial thrombosis with dire consequences.
    Conclusions: Hyporeninemic hypoaldosteronism is the mechanism causing the electrolyte disbalance reported in patients with RMND1 mutations, and can be treated.
    MeSH term(s) Child ; Humans ; Hypoaldosteronism/genetics ; Hypoaldosteronism/complications ; Aldosterone ; Renin/genetics ; Hyperkalemia/genetics ; Mitochondrial Diseases/complications ; Electrolytes ; Cell Cycle Proteins
    Chemical Substances Aldosterone (4964P6T9RB) ; Renin (EC 3.4.23.15) ; Electrolytes ; RMND1 protein, human ; Cell Cycle Proteins
    Language English
    Publishing date 2023-07-14
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-023-06079-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2196: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article: Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.

    Wassenberg, Tessa / Geurtz, Ben P H / Monnens, Leo / Wevers, Ron A / Willemsen, Michèl A / Verbeek, Marcel M

    Molecular genetics and metabolism reports

    2021  Volume 27, Page(s) 100762

    Abstract: Background: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of ... ...

    Abstract Background: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of monoamine neurotransmitter metabolites. Until now, it has not been systematically studied whether analysis of monamine neurotransmitter metabolites in blood or urine has diagnostic value as compared to cerebrospinal fluid examination, or whether monoamine neurotransmitter metabolites in these peripheral body fluids is useful to monitor treatment efficacy.
    Methods: Assessment, both by literature review and retrospective analysis of our local university hospital database, of monoamine neurotransmitter metabolites in urine, blood and cerebrospinal fluid, and serum prolactin levels, before and during treatment in patients with AADC and TH deficiency.
    Results: In AADC deficiency, 3-
    Conclusions: This study confirms that cerebrospinal fluid is the most informative body fluid to measure monoamine neurotransmitter metabolites when AADC or TH deficiency is suspected, and that routine follow-up of cerebrospinal fluid measurements to estimate treatment response is not needed. 3-
    Language English
    Publishing date 2021-04-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2021.100762
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Urinary excretion of polyols and sugars in children with chronic kidney disease.

    Vanlede, Koen / Kluijtmans, Leo A J / Monnens, Leo / Levtchenko, Elena

    Pediatric nephrology (Berlin, Germany)

    2015  Volume 30, Issue 9, Page(s) 1537–1540

    Abstract: Background: The urinary concentrations of monosaccharides and polyols are used for diagnosing inborn errors of metabolism and renal tubular disorders. Reference values are age-related and depend on the method of detection. However, the influence of the ... ...

    Abstract Background: The urinary concentrations of monosaccharides and polyols are used for diagnosing inborn errors of metabolism and renal tubular disorders. Reference values are age-related and depend on the method of detection. However, the influence of the renal function is often still neglected. In this study we examined the urinary excretion of monosaccharides and polyols in children with various degrees of chronic kidney disease (CKD), but with no known metabolic or renal tubular disorders.
    Case diagnosis/treatment: In 25 patients with CKD stage 1-5, urinary concentrations of 18 monosaccharides and polyols were measured by gas chromatography-mass spectrometry (GC-MS) in random urinary samples and were compared with age-related reference values. Serum creatinine was measured at the time of the urine sample, and the height-independent estimated glomerular filtration rate (eGFR-Pottel) was calculated. Urinary excretions of monosaccharides and polyols were above the reference values in 8-88% of all patients. A significant difference between CKD stage 1-2 compared with CKD stage 3-5 was found for allose, arabitol and sorbitol (p < 0.05) and for arabinose, fucose, myoinositol, ribitol, xylitol, and xylose (p < 0.01).
    Conclusions: We show that the excretion of polyols and sugars depends on eGFR, which warrants a cautious interpretation of the results in patients with CKD.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Creatinine/blood ; Female ; Gas Chromatography-Mass Spectrometry/methods ; Glomerular Filtration Rate ; Humans ; Male ; Monosaccharides/analysis ; Monosaccharides/pharmacokinetics ; Polymers/analysis ; Polymers/pharmacokinetics ; Renal Elimination ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/etiology ; Renal Insufficiency, Chronic/metabolism ; Research Design ; Severity of Illness Index ; Statistics as Topic ; Urogenital Abnormalities/complications ; Young Adult
    Chemical Substances Monosaccharides ; Polymers ; polyol ; Creatinine (AYI8EX34EU)
    Language English
    Publishing date 2015-09
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-015-3135-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2196: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment

    Tessa Wassenberg / Ben P.H. Geurtz / Leo Monnens / Ron A. Wevers / Michèl A. Willemsen / Marcel M. Verbeek

    Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100762- (2021)

    2021  

    Abstract: Background: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of ... ...

    Abstract Background: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of monoamine neurotransmitter metabolites. Until now, it has not been systematically studied whether analysis of monamine neurotransmitter metabolites in blood or urine has diagnostic value as compared to cerebrospinal fluid examination, or whether monoamine neurotransmitter metabolites in these peripheral body fluids is useful to monitor treatment efficacy. Methods: Assessment, both by literature review and retrospective analysis of our local university hospital database, of monoamine neurotransmitter metabolites in urine, blood and cerebrospinal fluid, and serum prolactin levels, before and during treatment in patients with AADC and TH deficiency. Results: In AADC deficiency, 3-O-methyldopa in serum or dried blood spots was reported in 34 patients and found to be (strongly) increased in all, serotonin in serum was decreased in 7/7 patients. Serum prolactin was increased in 34/37 and normal in 3 untreated patients. In urine, dopamine was normal or increased in 21/24 patients, 5-hydroxyindoleacetic acid was decreased in 9/10 patients, and vanillactic acid was increased in 19/20 patients. No significant changes were seen in monoamine neurotransmitter metabolites after medical treatment, except for an increase of homovanillic acid in urine and cerebrospinal fluid after levodopa therapy, sometimes even in absence of a clinical response. After gene therapy, cerebrospinal fluid homovanillic acid increased in most patients (8/12), but 5-hydroxyindoleacetic acid remained unchanged in 9/12 patients.In TH deficiency, serum prolactin was increased in 12/14 and normal in the remaining untreated patients. Urinary dopamine was decreased in 2/8 patients and normal in 6. Homovanillic acid concentrations in cerebrospinal fluid increased upon levodopa treatment, even in the absence of a ...
    Keywords Monoamine neurotransmitter deficiency ; Tyrosine hydroxylase deficiency ; Aromatic L-amino acid decarboxylase deficiency ; Biomarkers ; TH deficiency ; AADC deficiency ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Subject code 610 ; 616
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  7. Article ; Online: Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers.

    Wassenberg, Tessa / Willemsen, Michèl / Dijkman, Henry / Deinum, Jaap / Monnens, Leo

    Pediatric nephrology (Berlin, Germany)

    2016  Volume 32, Issue 7, Page(s) 1171–1174

    MeSH term(s) Adolescent ; Autonomic Nervous System Diseases/blood ; Autonomic Nervous System Diseases/diagnosis ; Autonomic Nervous System Diseases/genetics ; Biogenic Monoamines/blood ; Blepharoptosis/blood ; Blepharoptosis/diagnosis ; Blepharoptosis/genetics ; Consanguinity ; Creatinine/blood ; Dopamine beta-Hydroxylase/blood ; Dopamine beta-Hydroxylase/deficiency ; Dopamine beta-Hydroxylase/genetics ; Female ; Glomerular Filtration Rate ; Heart Rate ; Humans ; Hypotension, Orthostatic/blood ; Hypotension, Orthostatic/diagnosis ; Hypotension, Orthostatic/genetics ; Kidney Tubules/cytology ; Kidney Tubules/pathology ; Kidney Tubules/ultrastructure ; Microscopy, Electron ; Mitochondria/pathology ; Mitochondria/ultrastructure ; Muscle, Skeletal/cytology ; Muscle, Skeletal/pathology ; Norepinephrine/blood ; Norepinephrine/deficiency ; Norepinephrine/genetics
    Chemical Substances Biogenic Monoamines ; Creatinine (AYI8EX34EU) ; Dopamine beta-Hydroxylase (EC 1.14.17.1) ; Norepinephrine (X4W3ENH1CV)
    Language English
    Publishing date 2016-11-17
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-016-3515-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2196: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions.

    Wassenberg, Tessa / Willemsen, Michèl / Dijkman, Henry / Deinum, Jaap / Monnens, Leo

    Pediatric nephrology (Berlin, Germany)

    2016  Volume 32, Issue 7, Page(s) 1169–1170

    MeSH term(s) Adolescent ; Autonomic Nervous System Diseases/blood ; Autonomic Nervous System Diseases/diagnosis ; Autonomic Nervous System Diseases/genetics ; Autonomic Nervous System Diseases/pathology ; Biogenic Monoamines/blood ; Blepharoptosis/blood ; Blepharoptosis/diagnosis ; Blepharoptosis/genetics ; Consanguinity ; Creatinine/blood ; Dopamine beta-Hydroxylase/blood ; Dopamine beta-Hydroxylase/deficiency ; Dopamine beta-Hydroxylase/genetics ; Female ; Glomerular Filtration Rate ; Heart Rate ; Humans ; Hypotension, Orthostatic/blood ; Hypotension, Orthostatic/diagnosis ; Hypotension, Orthostatic/genetics ; Kidney Tubules/cytology ; Kidney Tubules/pathology ; Kidney Tubules/ultrastructure ; Microscopy, Electron ; Mitochondria/pathology ; Mitochondria/ultrastructure ; Muscle, Skeletal/cytology ; Muscle, Skeletal/pathology ; Norepinephrine/blood ; Norepinephrine/deficiency ; Norepinephrine/genetics
    Chemical Substances Biogenic Monoamines ; Creatinine (AYI8EX34EU) ; Dopamine beta-Hydroxylase (EC 1.14.17.1) ; Norepinephrine (X4W3ENH1CV)
    Language English
    Publishing date 2016-11-17
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-016-3494-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2196: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: NPHS2 Gene Mutation and Polymorphisms in Indonesian Children with Steroid-Resistant Nephrotic Syndrome

    Dedi Rachmadi / Ani Melani / Leo Monnens

    Open Journal of Pediatrics, Vol 05, Iss 01, Pp 27-

    2015  Volume 33

    Abstract: Objective: Although several NPHS2 gene mutations and polymorphisms were described and associated with clinical manifestation of steroid-resistant nephrotic syndrome (SRNS), the occurrence of these genetic abnormalities or variants appeared to be ... ...

    Abstract Objective: Although several NPHS2 gene mutations and polymorphisms were described and associated with clinical manifestation of steroid-resistant nephrotic syndrome (SRNS), the occurrence of these genetic abnormalities or variants appeared to be influenced by race and ethnic group. We have investigated probable mutations and variants in NPHS2 gene involved in SRNS and their association with clinical manifestations. Methods: We examined 28 children with primary SRNS whovisited the pediatric nephrology division of 10 teaching hospitals in Indonesia. Molecular genetic studies of the NPHS2 gene were conducted through screenings for the exon 1, exon 2, and exon 8. The mutational analysis of NPHS2 was performed by DNA sequencing. Fisher’s Exact Test was used to determine the correlation between NPHS2 polymorphisms and clinical manifestations.Results: Seven females (25%) and 21 males (75%) participated in the study. The mean age of the subjects with 95% CI is: 7.6 (6.1 - 9.0) years while the mean age at onset of disease with 95% CI is: 5.4 (3.9 - 7.0) years. Sixteen patients (57.14%) were younger than 6 years at the onset of disease. Seventeen (60.7%) subjects had normal eGFR, while 11 (39.3%) had chronic renal insufficiency. The mean eGFR of the subjects with 95% CI is: 111.4 (87.7 - 135.1) ml/min/1.73 m 2 . The mean systolic blood pressure with 95% CI is: 117.0 (108.9 - 125.1) mmHg and the mean diastolic blood pressure with 95% CI is: 77.0 (70.3 - 83.7) mmHg. We identified 6 NPHS2polymorphisms, i.e. g.-52G>T, c.101A>G, g.-117C>T, c.288C>T, c.954C>T, and c.1038A>G and no mutation was found. There was no correlation between NPHS2 polymorphisms and clinical manifestations (p > 0.05). Conclusion: The results demonstrate no mutation of NPHS2 gene, and the 6 NPHS2 gene polymorphisms that were identified have no correlation with the clinical manifestation in Indonesian children with SRNS.
    Keywords Steroid-Resistant Nephrotic Syndrome ; NPHS2 Gene ; Polymorphism ; Pediatrics ; RJ1-570 ; Medicine ; R
    Subject code 333
    Language English
    Publishing date 2015-01-01T00:00:00Z
    Publisher Scientific Research Publishing
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  10. Article ; Online: Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome.

    Monnens, Leo / Levtchenko, Elena

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

    2008  Volume 23, Issue 9, Page(s) 2719–2722

    MeSH term(s) Chloride Channels/physiology ; Cystinosis/genetics ; Cystinosis/physiopathology ; Fanconi Syndrome/physiopathology ; Humans ; Kidney Tubules, Proximal/physiopathology ; Low Density Lipoprotein Receptor-Related Protein-2/physiology ; Lysosomal Storage Diseases/genetics ; Oculocerebrorenal Syndrome/genetics ; Phosphoric Monoester Hydrolases/physiology ; Proteinuria/physiopathology ; Receptors, Cell Surface/physiology
    Chemical Substances CLC-5 chloride channel ; Chloride Channels ; Low Density Lipoprotein Receptor-Related Protein-2 ; Receptors, Cell Surface ; intrinsic factor-cobalamin receptor ; Phosphoric Monoester Hydrolases (EC 3.1.3.2) ; OCRL protein, human (EC 3.1.3.36)
    Language English
    Publishing date 2008-09
    Publishing country England
    Document type Editorial
    ZDB-ID 90594-x
    ISSN 1460-2385 ; 0931-0509
    ISSN (online) 1460-2385
    ISSN 0931-0509
    DOI 10.1093/ndt/gfn373
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2198: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 329: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top