Department of Pediatrics
Publications
- 2022
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Alves, C. A. P. F., Sherbini, O., D'Arco, F., Steel, D., Kurian, M. A., Radio, F. C., Ferrero, G. B., Carli, D., Tartaglia, M., Balci, T. B., Powell-Hamilton, N. N., Schrier Vergano, S. A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E. R., Littlejohn, R. O., Lessel, D., Lüttgen, S., Kentros, C., Anyane-Yeboa, K., Catarino, C. B., Mercimek-Andrews, S., Denecke, J., Lyons, M. J., Klopstock, T., Bhoj, E. J., Bryant, L. & Vanderver, A., 07.2022, In: AM J NEURORADIOL. 43, 7, p. 1048-1053 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy
Schorling, D. C., Kölbel, H., Hentschel, A., Pechmann, A., Meyer, N., Wirth, B., Rombo, R., Sickmann, A., Kirschner, J., Schara-Schmidt, U., Lochmüller, H., Roos, A. & SMArtCARE consortium, 07.2022, In: EUR J NEUROL. 29, 7, p. 2084-2096 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Spinal cord compression in patients with mucopolysaccharidosis
Pantel, T., Lindschau, M., Luebke, A. M., Kunkel, P., Dreimann, M., Muschol, N. & Eicker, S. O., 07.2022, In: EUR SPINE J. 31, 7, p. 1693-1699 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
Ammer, L. S., Muschol, N. M., Santer, R., Lang, A., Breyer, S. R., Sasu, P. B., Petzoldt, M. & Dohrmann, T., 24.06.2022, In: J CLIN MED. 11, 13, 3650.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021
Sorg, A-L., Bergfeld, L., Jank, M., Corman, V., Semmler, I., Goertz, A., Beyerlein, A., Verjans, E., Wagner, N., Von Bernuth, H., Lander, F., Weil, K., Hufnagel, M., Spiekerkoetter, U., Chao, C-M., Naehrlich, L., Muntau, A. C., Schulze-Sturm, U., Hansen, G., Wetzke, M., Jung, A-M., Niehues, T., Fricke-Otto, S., Von Both, U., Huebner, J., Behrends, U., Liese, J. G., Schwerk, C., Drosten, C., Von Kries, R. & Schroten, H., 06.06.2022, In: NAT COMMUN. 13, 1, 3128.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2
Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Hartmann, G., Rudolph, C. & Muschol, N. M., 06.06.2022, In: FRONT NEUROL. 13, p. 907317Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
Manivannan, S. N., Roovers, J., Smal, N., Myers, C. T., Turkdogan, D., Roelens, F., Kanca, O., Chung, H-L., Scholz, T., Hermann, K., Bierhals, T., Caglayan, H. S., Stamberger, H., MAE Working Group of EuroEPINOMICS RES Consortium, Mefford, H., de Jonghe, P., Yamamoto, S., Weckhuysen, S. & Bellen, H. J., 03.06.2022, In: BRAIN. 145, 5, p. 1684-1697 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
ScoMorphoFISH: A deep learning enabled toolbox for single-cell single-mRNA quantification and correlative (ultra-)morphometry
Siegerist, F., Hay, E., Dikou, J. S., Pollheimer, M., Büscher, A., Oh, J., Ribback, S., Zimmermann, U., Bräsen, J. H., Lenoir, O., Drenic, V., Eller, K., Tharaux, P-L. & Endlich, N., 06.2022, In: J CELL MOL MED. 26, 12, p. 3513-3526 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Calcium-Sensing Receptor Stabilizes Podocyte Function in Proteinuric Humans and Mice
Mühlig, A. K., Steingröver, J., Heidelbach, H. S., Wingerath, M., Sachs, W., Hermans-Borgmeyer, I., Meyer-Schwesinger, C., Choi, H. Y., Lim, B. J., Patry, C., Hoffmann, G. F., Endlich, N., Bracke, K., Weiß, M., Guse, A. H., Lassé, M., Rinschen, M., Braun, F., Huber, T. B., Puelles, V. G., Schmitt, C. P. & Oh, J., 06.2022, In: KIDNEY INT. 101, 6, p. 1186-1199 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The consequences of neonatal pain, stress and opiate administration in animal models: an extensive meta-analysis concerning neuronal cell death, motor and behavioral outcomes
Steinbauer, P., Monje, F. J., Kothgassner, O., Goreis, A., Eva, C., Wildner, B., Schned, H., Deindl, P., Seki, D., Berger, A., Olischar, M. & Giordano, V., 06.2022, In: NEUROSCI BIOBEHAV R. 137, 104661.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
The Spaced Learning Concept in Combination With Halsted and Peyton - A Randomized Controlled Study
Le, M., Boettcher, J., Vincent, D., Elrod, J., Mietzsch, S., Romero, P., Perez, A., Reinshagen, K. & Boettcher, M., 17.05.2022, In: J SURG EDUC. 79, 5, p. 1228-1236 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
How peritoneal dialysis transforms the peritoneum and vasculature in children with chronic kidney disease-what can we learn for future treatment?
Bartosova, M., Zarogiannis, S. G., Schmitt, C. P. & Members of the International Pediatric Peritoneal Biobank, 05.05.2022, In: Molecular and cellular pediatrics. 9, 1, p. 9Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., 05.2022, In: EUR J HUM GENET. 30, 5, p. 611-618 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample
Wibbeler, E., Nickel, M., Schwering, C., Schulz, A. & Mink, J. W., 05.2022, In: EUR J PAEDIATR NEURO. 38, p. 62-65 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)
Lenders, M., Nordbeck, P., Kurschat, C., Eveslage, M., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., von Cossel, K., Blaschke, D., Brand, S-M., Alexander Mann, W., Kampmann, C., Muschol, N., Canaan-Kühl, S. & Brand, E., 05.2022, In: EUR HEART J-CARD PHA. 8, 3, p. 272–281Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pneumopericardium in a Preterm Infant with Marked Pulmonary Hypoplasia
Tomuschat, C., Jürgens, J. & Deindl, P., 15.04.2022, In: DTSCH ARZTEBL INT. 119, 15, 276.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive
Marten, L. M., Wanes, D., Stellbrinck, T., Santer, R. & Naim, H. Y., 01.04.2022, In: BBA-MOL BASIS DIS. 1868, 4, p. 166338Research output: SCORING: Contribution to journal › Letter › Research › peer-review
Intravenous fluids: Issues warranting concern
Mertzlufft, F., Brettner, F., Crystal, G. J., Hollmann, M. W., Kasatkin, A., Lönnqvist, P-A., Singer, D., Sümpelmann, R., Wenzel, V., Zander, R. & Ziegenfuß, T., 01.04.2022, In: EUR J ANAESTH. 39, 4, p. 394-396 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Beinahe-Darmperforation durch rektale Temperatursonde
Ebenebe, C. U., Singer, D. & Tomuschat, C., 04.2022, In: Z GEBURTSH NEONATOL. 226, 2, p. 142-143 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mucha-Habermann disease: a pediatric case report and proposal of a risk score
Blohm, M. E., Ebenebe, C. U., Rau, C., Escherich, C., Johannsen, J., Escherich, G., Driemeyer, J., Nagel, P. D., Kobbe, R., Lütgehetmann, M., Lennartz, M., Booken, N., Schneider, S. W. & Singer, D., 04.2022, In: INT J DERMATOL. 61, 4, p. 401-409 9 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
PIGN encephalopathy: Characterizing the epileptology
Bayat, A., de Valles-Ibáñez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., des Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M. S., Jezela-Stanek, A., Jouk, P-S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J. R., Li, H., Martinez, F., Maxton, C., Mefford, H. C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L. E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E. M. C., Stegmann, A. P. A., Stumpel, C. T., Szczepanik, E., Terczyńska, I., Thevenon, J., Tzschach, A., Van Bogaert, P., Vittorini, R., Walsh, S., Weckhuysen, S., Weissman, B., Wolfe, L., Reymond, A., De Nittis, P., Poduri, A., Olson, H., Striano, P., Lesca, G., Scheffer, I. E., Møller, R. S. & Sadleir, L. G., 04.2022, In: EPILEPSIA. 63, 4, p. 974-991 18 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Thyroid function, thyroid antibodies and early postnatal development in neonates of mothers with thyroid disorders
Stoltefaut, M., Fröschle, G. M., Haddad, M., Perez, A., Blohm, M. E., Deindl, P., Singer, D. & Ebenebe, C. U., 04.2022, In: EARLY HUM DEV. 167, 105561.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
Demal, T. J., Scholz, T., Schüler, H., Olfe, J., Fröhlich, A., Speth, F., von Kodolitsch, Y., Mir, T. S., Reichenspurner, H., Kubisch, C., Hempel, M. & Rosenberger, G., 16.03.2022, In: SCI REP-UK. 12, 1, p. 4489Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
„Fremdkörper“ im Röntgenbild: dislozierter thorako-amnialer Shunt
Reinsch, F., Vogelsang, V., Klohs, S., Weinrich, J., Geipel, A., Gembruch, U., Singer, D. & Ebenebe, C., 14.03.2022, In: Z GEBURTSH NEONATOL. 226, 5, p. 349-350 2 p.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Infant immunity against viral infections is advanced by the placenta-dependent vertical transfer of maternal antibodies
Albrecht, M., Pagenkemper, M., Wiessner, C., Spohn, M., Lütgehetmann, M., Jacobsen, H., Gabriel, G., Zazara-Giannou, D. E., Haertel, C., Hecher, K., Diemert, A. & Arck, P. C., 08.03.2022, In: VACCINE. 40, 11, p. 1563-1571 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
Breast Cancer Association Consortium (BCAC), Mavaddat, N., Dorling, L., Carvalho, S., Allen, J., González-Neira, A., Keeman, R., Bolla, M. K., Dennis, J., Wang, Q., Ahearn, T. U., Andrulis, I. L., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Briceno, I., Brüning, T., Camp, N. J., Campbell, A., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chenevix-Trench, G., Christiansen, H., Czene, K., Dörk, T., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J. D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Geisler, J., Giles, G. G., Guénel, P., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Hartikainen, J. M., Hartman, M., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E. K., Kristensen, V. N., Li, J., Lim, S. H., Lindblom, A., Loizidou, M. A., Lophatananon, A., Lubinski, J., Madsen, M. J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R. L., Mohd Taib, N. A., Morra, A., Muir, K., Obi, N., Osorio, A., Park-Simon, T-W., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Shah, M., Sim, X., Southey, M. C., Thorne, H., Tomlinson, I., Torres, D., Truong, T., Yip, C. H., Spurdle, A. B., Vreeswijk, M. P. G., Dunning, A. M., García-Closas, M., Pharoah, P. D. P., Kvist, A., Muranen, T. A., Nevanlinna, H., Teo, S. H., Devilee, P., Schmidt, M. K. & Easton, D. F., 01.03.2022, In: JAMA ONCOL. 8, 3, p. e216744 e216744.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Author Correction: Platelet GPIbα is a mediator and potential interventional target for NASH and subsequent liver cancer
Malehmir, M., Pfister, D., Gallage, S., Szydlowska, M., Inverso, D., Kotsiliti, E., Leone, V., Peiseler, M., Surewaard, B. G. J., Rath, D., Ali, A., Wolf, M. J., Drescher, H., Healy, M. E., Dauch, D., Kroy, D., Krenkel, O., Kohlhepp, M., Engleitner, T., Olkus, A., Sijmonsma, T., Volz, J., Deppermann, C., Stegner, D., Helbling, P., Nombela-Arrieta, C., Rafiei, A., Hinterleitner, M., Rall, M., Baku, F., Borst, O., Wilson, C. L., Leslie, J., O'Connor, T., Weston, C. J., Chauhan, A., Adams, D. H., Sheriff, L., Teijeiro, A., Prinz, M., Bogeska, R., Anstee, N., Bongers, M. N., Notohamiprodjo, M., Geisler, T., Withers, D. J., Ware, J., Mann, D. A., Augustin, H. G., Vegiopoulos, A., Milsom, M. D., Rose, A. J., Lalor, P. F., Llovet, J. M., Pinyol, R., Tacke, F., Rad, R., Matter, M., Djouder, N., Kubes, P., Knolle, P. A., Unger, K., Zender, L., Nieswandt, B., Gawaz, M., Weber, A. & Heikenwalder, M., 03.2022, In: NAT MED. 28, 3, p. 600Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities
Kluck, R., Müller, S., Jagodzinski, C., Hohenfellner, K., Büscher, A., Kemper, M. J., Oh, J., Billing, H., Thumfart, J., Weber, L. T., Acham-Roschitz, B., Arbeiter, K., Tönshoff, B., Hagenberg, M., Kanzelmeyer, N., Pavičić, L., Haffner, D. & Zivicnjak, M., 03.2022, In: J INHERIT METAB DIS. 45, 2, p. 192-202 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotypic analysis of the pediatric immune response to SARS-CoV-2 by flow cytometry
Sibbertsen, F., Glau, L., Paul, K., Mir, T. S., Gersting, S. W., Tolosa, E. & Dunay, G. A., 03.2022, In: CYTOM PART A. 101, 3, p. 220-227 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Temporally extended and reversible neuronal silencing with Aion
Rodriguez-Rozada, S., Wietek, J., Tenedini, F. M., Sauter, K., Hegemann, P., Soba, P. & Wiegert, J. S., 28.02.2022, bioRxivResearch output: Other contribution › Other › Research
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Lanar, S., Parker, S., O'Neill, C., Marrel, A., Arnould, B., Héron, B., Muschol, N., Wijburg, F. A., Chakrapani, A., Olivier, S. & Aiach, K., 22.02.2022, In: ORPHANET J RARE DIS. 17, 1, p. 75Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
Wijburg, F. A., Aiach, K., Chakrapani, A., Eisengart, J. B., Giugliani, R., Héron, B., Muschol, N., O'Neill, C., Olivier, S. & Parker, S., 02.2022, In: MOL GENET METAB. 135, 2, p. 133-142 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
Holzwarth, J., Minopoli, N., Pfrimmer, C., Smitka, M., Borrel, S., Kirschner, J., Muschol, N., Hartmann, H., Hennermann, J. B., Neubauer, B. A., Hobbiebrunken, E., Husain, R. & Hahn, A., 02.2022, In: NEUROPEDIATRICS. 53, 1, p. 39-45 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment
Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Rudolph, C. & Muschol, N., 02.2022, In: MOL GENET METAB. 135, 2, S19.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
Markers of neutrophil activation and extracellular trap formation predict appendicitis
Boettcher, M., Schacker, A-L., Esser, M., Schönfeld, L., Ebenebe, C. U., Rohde, H., Mokhaberi, N., Trochimiuk, M., Appl, B., Raluy, L. P., Reinshagen, K., Klohs, S. & Königs, I., 02.2022, In: SURGERY. 171, 2, p. 312-319 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Maternal versus paternal living kidney transplant donation is associated with lower rejection in young pediatric recipients: A Collaborative Transplant Study report
Engels, G., Döhler, B., Tönshoff, B., Oh, J., Kruchen, A., Müller, I. & Süsal, C., 02.2022, In: PEDIATR TRANSPLANT. 26, 1, e14154.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Response to Battaglia and Balestracci
Loos, S., 02.2022, In: PEDIATR NEPHROL. 37, 2, p. 465Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp, H-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M. & Lessel, D., 02.2022, In: HUM GENET. 141, 2, p. 257-272 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
Lopez-Fabuel, I., Garcia-Macia, M., Buondelmonte, C., Burmistrova, O., Bonora, N., Alonso-Batan, P., Morant-Ferrando, B., Vicente-Gutierrez, C., Jimenez-Blasco, D., Quintana-Cabrera, R., Fernandez, E., Llop, J., Ramos-Cabrer, P., Sharaireh, A., Guevara-Ferrer, M., Fitzpatrick, L., Thompton, C. D., McKay, T. R., Storch, S., Medina, D. L., Mole, S. E., Fedichev, P. O., Almeida, A. & Bolaños, J. P., 27.01.2022, In: NAT COMMUN. 13, 1, p. 536Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET
Wiegand-Grefe, S., Denecke, J. & CARE-FAM-NET Studiengruppe, 04.01.2022, In: MONATSSCHR KINDERH. 170, p. 44 - 51 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
Derks, T., Lubout, C., Woidy, M. & Santer, R., 01.2022, Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau, N., Vici, C. D., Ferreira, C. R., Vianey-Saban, C. & van Karnebeek, C. D. M. (eds.). 2 ed. Springer Nature Switzerland, p. 649-700 52 p.Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
Ditters, I. A. M., Huidekoper, H. H., Kruijshaar, M. E., Rizopoulos, D., Hahn, A., Mongini, T. E., Labarthe, F., Tardieu, M., Chabrol, B., Brassier, A., Parini, R., Parenti, G., van der Beek, N. A. M. E., van der Ploeg, A. T., van den Hout, J. M. P. & European Pompe Consortium project group on classic infantile Pompe disease, 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 28-37 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fatal outcome of SARS-CoV-2 infection (B1.1.7) in a 4-year-old child
Menger, J., Apostolidou, S., Edler, C., Kniep, I., Kobbe, R., Singer, D. & Sperhake, J-P., 01.2022, In: INT J LEGAL MED. 136, 1, p. 189-192 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
Weiß, C., Ziegler, A., Becker, L-L., Johannsen, J., Brennenstuhl, H., Schreiber, G., Flotats-Bastardas, M., Stoltenburg, C., Hartmann, H., Illsinger, S., Denecke, J., Pechmann, A., Müller-Felber, W., Vill, K., Blaschek, A., Smitka, M., van der Stam, L., Weiss, K., Winter, B., Goldhahn, K., Plecko, B., Horber, V., Bernert, G., Husain, R. A., Rauscher, C., Trollmann, R., Garbade, S. F., Hahn, A., von der Hagen, M. & Kaindl, A. M., 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 17-27 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Analysis of Activity and Expression of the NLRP3, AIM2, and NLRC4 Inflammasome in Whole Blood
Grinstein, L. & Winkler, S., 2022, The Inflammasome: Methods and Protocols. Abdul-Sater, A. A. (ed.). 1 ed. New York, NY: Humana Press, p. 105-116 12 p. (Methods in Molecular Biology; vol. 2459).Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
Data quality of reported child immunization coverage in 194 countries between 2000 and 2019.
Rau, C., Lüdecke, D., Dumolard, L. B., Grevendonk, J., Wiernik, B. M., Kobbe, R., Gacic-Dobo, M. & Danovaro-Holliday, M. C., 2022, In: PLOS Global Public Health. 2, 2, p. e0000140 e0000140.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI
Nagpal, R., Georgi, G., Knauth, S., Schmid-Herrmann, C., Muschol, N., Braulke, T., Kahl-Nieke, B., Amling, M., Schinke, T., Koehne, T. & Petersen, J., 2022, In: FRONT PHYSIOL. 13, 998039.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Estimation of Optimal Nasotracheal Tube Insertion Depth in Neonates Based on Fetal Biometric Measurements
Selter, M., Deindl, P., Wolf, M., Herrmann, J., Hecher, K., Singer, D. & Ebenebe, C. U., 2022, In: NEONATOLOGY. 119, 3, p. 397-401 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses
Bartsch, U. & Storch, S., 2022, In: FRONT NEUROL. 13, 866983.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Mode of Action, Efficacy, and Safety of Radiant Warmers in Neonatology
Singer, D., 2022, Water-filtered Infrared A (wIRA) Irradiation: From Research to Clinical Settings. Vaupel, P. (ed.). 1 ed. Cham: Springer Nature Switzerland, p. 167-177 11 p.Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review