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1
von Donge, Mylène ; Marie, Sandrine ; Pochet, Amandine ; et al.
International Journal of Neonatal Screening, Vol. 11, no.3, p. 59 (2025)
Schlagworte: pyridoxine-dependent epilepsy; ALDH7A1; 2-OPP; 6-oxo-pipecolate; pipecolate; FIA-MS/MS; newborn screening; dried blood spots; 2S; 6S-/2S; 6R-oxopropylpiperidine-2-carboxylate
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2
von Aelvoet, Yoni ; VERLOO, PATRICK ; Vanlander, Arnaud ; et al.
JIMD REPORTS ; ISSN: 2192-8304 ; ISSN: 2192-8312
Schlagworte: Medicine and Health Sciences; FARSA deficiency; idiopathic liver disease; neonatal cholestasis; neonatal liver failure; phenylalanyl-tRNA; Rajab interstitial lung disease; tRNA synthetase
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3
von Willième, Karen ; Dheedene, Annelies ; Vanlander, Arnaud ; et al.
CLINICAL GENETICS ; ISSN: 0009-9163 ; ISSN: 1399-0004
Schlagworte: Medicine and Health Sciences; hypsarrhythmia; KCNT1; PHACTR1; slack channel
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4
von Poggio, Elena ; Barazzuol, Lucia ; Salmaso, Andrea ; et al.
In Genetics in Medicine December 2023 25(12)
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5
von Lee, Anja ; Bliksrud, Yngve Thomas ; Onali, Michela ; et al.
JOURNAL OF INHERITED METABOLIC DISEASE ; ISSN: 0141-8955 ; ISSN: 1573-2665
Schlagworte: Medicine and Health Sciences; LIFE-LIMITING CONDITIONS; QUALITY-OF-LIFE; INBORN-ERRORS; ADVANCE CARE; NONCANCER PATIENTS; DECISION-MAKING; SERIOUS ILLNESS; END; DISORDERS; SYMPTOMS
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6
von Braekman, Eline ; Raes, Ann ; De Bruyne, Ruth ; et al.
KIDNEY INTERNATIONAL REPORTS ; ISSN: 2468-0249
Schlagworte: Medicine and Health Sciences
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7
von Schuermans, Nika ; El Chehadeh, Salima ; Hemelsoet, Dimitri ; et al.
Nature Genetics. 55(11):1929-1940
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8
von Mendes, Marisa ; Wolf, Nicole ; Rudinger-Thirion, Joelle ; et al.
NUCLEIC ACIDS RESEARCH ; ISSN: 0305-1048 ; ISSN: 1362-4962
Schlagworte: Medicine and Health Sciences; Biology and Life Sciences; SPINAL-CORD INVOLVEMENT; BRAIN-STEM; SPECTROPHOTOMETRIC ASSAY; QUALITY-CONTROL; HEARING-LOSS; OF-FUNCTION; MUTATIONS; DEFICIENCY; EXPRESSION; GENE
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9
von Van Biervliet, Stephanie ; Vande Velde, Saskia ; De Bruyne, Pauline ; et al.
ACTA GASTRO-ENTEROLOGICA BELGICA ; ISSN: 1784-3227
Schlagworte: Medicine and Health Sciences; Biology and Life Sciences; chylomicronemia; pancreatitis; lipoprotein lipase; child; MANAGEMENT; DIAGNOSIS
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10
von Venegas, Eva ; Langeveld, Simone ; Ahring, Kirsten ; et al.
NUTRIENTS ; ISSN: 2072-6643
Schlagworte: Biology and Life Sciences; Medicine and Health Sciences; phenylalanine hydroxylase deficiency; nutritional status; amino acid; micronutrient; cognitive wellbeing; FACT-COG; PKU; DEFICIENCY; CANCER; RISK
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11
von Naesens, Leslie ; Nemegeer, Josephine ; Roelens, Filip ; et al.
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(5):962-974
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12
von Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin ; et al.
In Genetics in Medicine January 2021 23(1):202-210
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13
von Nika Schuermans ; Dimitri Hemelsoet ; Wim Terryn ; et al.
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Schlagworte: Rare diseases; UD-PrOZA; Diagnostic odyssey; Whole exome sequencing; Diagnostic yield; MAP3K7; Medicine
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14
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders
von Schuermans, Nika ; Verdin, Hannah ; Ghijsels, Jody ; et al.
Neurology Genetics ; volume 9, issue 3 ; ISSN 2376-7839
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15
von Roels, Frank ; VERLOO, PATRICK ; De Paepe, Boel ; et al.
JOURNAL OF INHERITED METABOLIC DISEASE ; ISSN: 0141-8955 ; ISSN: 1573-2665
Schlagworte: Medicine and Health Sciences; Biology and Life Sciences; AGT; catalase; cytochrome oxidase; complex IV; complex II; glycogen storage; Pompe; CINAC
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16
von De Rudder, Jonathan ; VERLOO, PATRICK ; Prytula-Ebels, Agnieszka ; et al.
BELGIAN JOURNAL OF PAEDIATRICS ; ISSN: 2466-8907 ; ISSN: 2566-1558
Schlagworte: Medicine and Health Sciences; hyperammonaemia; infants; renal replacement therapy; AKI; Utoped; Utopaed; safepedrug
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17
von Snauwaert, Evelien ; De Rudder, Jonathan ; VERLOO, PATRICK ; et al.
Annual Dialysis Congress, Abstracts
Schlagworte: Medicine and Health Sciences; hyperammonaemia; infants; renal replacement therapy; AKI; ERknet
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18
von Snauwaert, Evelien ; De Rudder, Jonathan ; VERLOO, PATRICK ; et al.
53rd European Society of Pediatric Nephrology Annual Meeting, Abstracts
Schlagworte: Medicine and Health Sciences
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19
von Eloot, Sunny ; De Rudder, Jonathan ; VERLOO, PATRICK ; et al.
TOXINS ; ISSN: 2072-6651
Schlagworte: Medicine and Health Sciences; Toxicology; Health; Toxicology and Mutagenesis; hyperammonemia; inborn errors of metabolism; hemodialysis; infant; RENAL REPLACEMENT THERAPY; UREA CYCLE DISORDERS; INBORN-ERRORS; MANAGEMENT; SURVIVAL; MACHINE; INFANTS
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20
von Rubio-Gozalbo, M Estela ; Derks, Britt ; Das, Anibh Martin ; et al.
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; . (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9
Schlagworte: 610 Medicine & health
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21
von Schuermans, Nika ; El Chehadeh, Salima ; Hemelsoet, Dimitri ; et al.
EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438
Schlagworte: Medicine and Health Sciences; Biology and Life Sciences
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22
von Katrien Stouffs ; Patrick Verloo ; Stefanie Brock ; et al.
Frontiers in Genetics, Vol 11 (2020)
Schlagworte: NEDD4L; periventricular nodular heterotopia; polymicrogyria; syndactyly; seizures; malformation of cortical development; Genetics; QH426-470
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23
von Schwahn, Bernd C. ; Scheffner, Thomas ; Stepman, Hedwig ; et al.
JIMD REPORTS ; ISSN: 2192-8304 ; ISSN: 2192-8312
Schlagworte: Medicine and Health Sciences
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24
von Stouffs, Katrien ; Verloo, Patrick ; Brock, Stefanie ; et al.
1664-8021 ; Frontiers in genetics
Schlagworte: Human medicine
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25
von Tavernier, Simon ; Athanasopoulos, V ; VERLOO, PATRICK ; et al.
NATURE COMMUNICATIONS ; ISSN: 2041-1723
Schlagworte: Biology and Life Sciences; Medicine and Health Sciences; HELPER T-CELLS; MACROPHAGE ACTIVATION SYNDROME; CONSTITUTIVE-DECAY; ELEMENT; MESSENGER-RNA DECAY; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; ROQ; DOMAIN; COMPLEX; RECOGNITION; DISEASE; REGNASE-1
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