F. Trefz
发表
A. Rupp,
P. Burgard,
U. Lichter-Konecki,
2009,
European Journal of Pediatrics.
P. Fernhoff,
B. Burton,
A. Chakrapani,
2011,
Molecular genetics and metabolism.
F. Güttler,
H. Lou,
U. Lichter-Konecki,
1991,
The New England journal of medicine.
W. Greiner,
F. Rutsch,
F. Trefz,
2021,
Molecular genetics and metabolism reports.
S. Seneca,
H. Mandel,
L. de Meirleir,
2003,
Human mutation.
M. Leichsenring,
G. Hoffmann,
M. Lindner,
2011,
Orphanet journal of rare diseases.
H. Bremer,
E. Mayatepek,
G. Hoffmann,
1996,
European Journal of Pediatrics.
W. Grodd,
I. Krägeloh-Mann,
D. Petersen,
1990,
The Lancet.
A. Chakrapani,
H. Levy,
C. Whitley,
2007,
The Lancet.
D. Scheible,
F. Trefz,
H. Götz,
2009,
Journal of Inherited Metabolic Disease.
N. Blau,
A. Macdonald,
M. Giovannini,
2009,
Molecular genetics and metabolism.
P. Burgard,
U. Lichter-Konecki,
D. Konecki,
1993,
Clinica chimica acta; international journal of clinical chemistry.
B. Maranda,
J. Abdenur,
S. Korman,
2010,
Human mutation.
K. McMartin,
S. Schiffman,
B. Shaywitz,
2002,
Regulatory toxicology and pharmacology : RTP.
N. Blau,
S. Santra,
A. Macdonald,
2015,
Molecular genetics and metabolism.
H. Chaib,
F. Hildebrandt,
B. Hoskins,
2010
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H. Bremer,
P. Burgard,
F. Trefz,
1999,
European Journal of Pediatrics.
N. Blau,
D. Scheible,
F. Trefz,
2005,
Molecular genetics and metabolism.
U. Lichter-Konecki,
S. Woo,
D. Konecki,
1992,
Biochemistry.
N. Blau,
S. Huijbregts,
A. Macdonald,
2017,
Orphanet Journal of Rare Diseases.
A. Blaschek,
M. Spraul,
S. Kölker,
2021,
Orphanet Journal of Rare Diseases.
D. Valle,
C. Stanley,
P. Divry,
1991,
Annals of neurology.
E. Mayatepek,
D. Millington,
D. Matern,
1999,
Pediatric Research.
D. Scheible,
F. Trefz,
G. Frauendienst-Egger,
2010,
Journal of Inherited Metabolic Disease.
J. Vockley,
B. Burton,
N. Longo,
2009,
The Journal of pediatrics.
N. Blau,
F. Trefz,
Christa Aulela-Scholz,
2001,
European Journal of Pediatrics.
A. Chakrapani,
H. Levy,
M. Cleary,
2007
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N. Blau,
F. Trefz,
2002,
Molecular genetics and metabolism.
A. Dilella,
K. Brayton,
U. Lichter-Konecki,
1988,
Biochemistry.
R. Matalon,
P. Guldberg,
R. Koch,
1999,
Pediatrics.
L. D. de Sonneville,
F. Trefz,
H. Schmidt,
1995,
The Journal of pediatrics.
U. Lichter-Konecki,
D. Konecki,
F. Trefz,
1994,
Journal of Inherited Metabolic Disease.
N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Molecular genetics and metabolism.
A. Munnich,
A. Rötig,
H. Bremer,
1993,
European Journal of Pediatrics.
A. Munnich,
A. Rötig,
K. Gibson,
1992,
The Journal of pediatrics.
N. Blau,
F. Trefz,
B. Fiege,
2004
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N. Blau,
F. Trefz,
2003,
Pediatrics.
N. Blau,
F. Trefz,
C. Bernegger,
2003,
European Journal of Pediatrics.
V. Stoppioni,
J. Vockley,
B. Burton,
2020,
American journal of human genetics.
U. Lichter-Konecki,
D. Konecki,
F. Trefz,
1992,
Human Genetics.
E. Mayatepek,
U. Steuerwald,
A. Das,
2006,
Clinical chemistry.
S. Waisbren,
R. Koch,
L. Platt,
2000,
European Journal of Pediatrics.
C. Gasteyger,
A. Burlina,
A. Macdonald,
2014,
European Journal of Pediatrics.
U. Lichter-Konecki,
D. Konecki,
F. Trefz,
1989,
European Journal of Pediatrics.
U. Lichter-Konecki,
D. Konecki,
F. Trefz,
1991,
Human Genetics.
M. Devoto,
I. Dianzani,
G. Saglio,
1990,
Journal of Inherited Metabolic Disease.
F. Trefz,
H. Schmidt,
H. Bickel,
2005,
European Journal of Pediatrics.
M. Devoto,
I. Dianzani,
G. Saglio,
1990,
Human Genetics.
U. Lichter-Konecki,
D. Konecki,
F. Trefz,
1990,
Human Genetics.
U. Lichter-Konecki,
D. Konecki,
F. Trefz,
1988,
Acta paediatrica Japonica : Overseas edition.
P. Guldberg,
R. Koch,
A. Romstad,
2003,
Pediatrics.
N. Blau,
S. Huijbregts,
A. Burlina,
2017,
The lancet. Diabetes & endocrinology.
T. Dörk,
M. Krawczak,
U. Wahn,
1990,
Human Genetics.
D. Berg,
M. Spraul,
A. Pilotto,
2020,
Orphanet Journal of Rare Diseases.
M. Baumgartner,
D. Scheible,
M. Huemer,
2016,
Molecular genetics and metabolism reports.
T. Nägele,
R. Wanders,
A. Melms,
2004,
Annals of neurology.
F. Hanefeld,
H. Bremer,
C. Roe,
1991,
Pediatrics.
B. Tauscher,
F. Trefz,
G. Hammersen,
1981,
European Journal of Pediatrics.
M. Baumgartner,
H. Mandel,
E. Martins,
2014,
Journal of Inherited Metabolic Disease.
S. Waisbren,
R. Koch,
K. Michals‐Matalon,
1999
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S. Brosch,
M. Baur,
F. Trefz,
2008,
HNO.
H. Bremer,
W. Nyhan,
F. Trefz,
1991,
Clinica chimica acta; international journal of clinical chemistry.
R. Koch,
F. Trefz,
S. Cipcic-Schmidt,
2000,
European Journal of Pediatrics.
N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Pediatrics.
F. Maillot,
F. Trefz,
M. Schwarz,
2011,
Molecular genetics and metabolism.
F. Trefz,
D. Byrd,
W. Kochen,
1975,
Journal of chromatography.
M. Schuelke,
H. Krude,
J. Smeitink,
2002,
Annals of neurology.
M. Baumgartner,
T. Suormala,
P. Chinnery,
2016,
Journal of Inherited Metabolic Disease.
K. Scheffler,
D. Berg,
A. Padovani,
2020,
Neurology.
N. Blau,
S. Huijbregts,
A. Burlina,
2017,
The lancet. Diabetes & endocrinology.
N. Blau,
T. Coşkun,
A. Burlina,
2015,
European Journal of Pediatrics.
U. Lichter-Konecki,
D. Konecki,
F. Trefz,
1988,
Human Genetics.
Ralf Hofestädt,
Thoralf Töpel,
Dagmar Scheible,
2006,
Applied bioinformatics.
T. Coşkun,
U. Lichter-Konecki,
D. Konecki,
1989,
Human Genetics.
A. Burlina,
F. Trefz,
H. Ogier,
2001,
Molecular genetics and metabolism.
H. Chaib,
F. Hildebrandt,
B. Hoskins,
2010,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
E. Holme,
M. Ugarte,
J. Leonard,
2001,
Journal of Inherited Metabolic Disease.
P. Guldberg,
R. Koch,
F. Güttler,
2001,
Pediatric Research.
S. Waisbren,
R. Koch,
F. Trefz,
2010,
Molecular genetics and metabolism.
M. Langeveld,
T. Coşkun,
S. Huijbregts,
2021,
Molecular genetics and metabolism.
M. Spraul,
S. Biskup,
N. Himmelreich,
2022,
NMR in biomedicine.
N. Blau,
J. Okun,
G. Hoffmann,
2021,
Metabolites.
S. Waisbren,
R. Koch,
F. Güttler,
2003,
Pediatrics.
E. Bettiol,
N. Blau,
C. Gasteyger,
2013,
Molecular genetics and metabolism.
F. Trefz,
K. Ullrich,
B. Fünders,
2009,
European Journal of Pediatrics.
L. Sonneville,
P. Matthis,
C. Benninger,
1994,
Human Genetics.
F. Trefz,
P. Kaiser,
C. Backsch,
2000,
American journal of medical genetics.
K. Schärer,
R. Waldherr,
F. Manz,
1984,
Clinical nephrology.
M. Durán,
E. Christensen,
J. Leonard,
1995,
Journal of Inherited Metabolic Disease.
K. Scheffler,
D. Berg,
C. Zipser,
2019,
Journal of inherited metabolic disease.
P. Lutz,
F. Trefz,
D. Hunneman,
1979,
Clinica chimica acta; international journal of clinical chemistry.
M. Blaskovics,
P. Lutz,
F. Trefz,
1976,
Clinica chimica acta; international journal of clinical chemistry.
P. Lutz,
F. Trefz,
H. W. Seyberth,
1981,
Journal of Inherited Metabolic Disease.
K. Olek,
F. Trefz,
K. Bartholomé,
2004,
Human Genetics.
P. Lutz,
F. Trefz,
H. Schmidt,
1978,
Monographs in human genetics.
J. Zschocke,
G. Hoffmann,
P. Burgard,
2007,
Journal of Inherited Metabolic Disease.
W. Rascher,
I. Knerr,
E. Christensen,
2002,
Journal of Inherited Metabolic Disease.
S. Kölker,
O. Mehls,
F. Trefz,
2004,
Pediatric Nephrology.
J. Valk,
H. Hartung,
M. Durán,
1992,
Annals of neurology.
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
D. Zafeiriou,
J. Celli,
J. D. den Dunnen,
2010,
Human mutation.
Edward L. Huttlin,
J. Mullikin,
T. Meitinger,
2017,
American journal of human genetics.
N. Blau,
G. Hoffmann,
P. Burgard,
2018,
Genetics in Medicine.
N. Blau,
P. Burgard,
S. Garbade,
2018,
Genetics in Medicine.
A. Bayat,
M. Godejohann,
M. Spraul,
2023,
Molecules.
T. Coşkun,
S. Huijbregts,
A. Macdonald,
2020,
Orphanet Journal of Rare Diseases.
A. Macdonald,
J. Rocha,
F. Trefz,
2013,
Molecular genetics and metabolism.
A. Macdonald,
J. Rocha,
F. Trefz,
2013
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N. J. Malik,
M. Krawczak,
M. Schwartz,
1987,
Human Genetics.
N. Blau,
F. Trefz,
Anna van Wegberg,
2017
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P. Matthis,
F. Trefz,
U. Mischke,
1995,
Journal of Inherited Metabolic Disease.
A. Burlina,
F. Rutsch,
F. Trefz,
2015,
JIMD reports.
K. Sartor,
M. Leichsenring,
H. Bremer,
1993,
Pediatrics.
J. Schmidtke,
D. Konecki,
M. Krawczak,
1988,
Human Genetics.
R. Koch,
C. Azen,
F. Trefz,
1997,
American journal of medical genetics.
A. Munafo,
N. Blau,
O. Lichtenberger,
2015,
Molecular genetics and metabolism.
R. Koch,
C. Azen,
H. Levy,
2003,
Pediatrics.
A. Munafo,
N. Blau,
O. Lichtenberger,
2015,
Molecular genetics and metabolism.
N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Molecular genetics and metabolism.
R. Matalon,
P. Guldberg,
R. Koch,
1999,
Pediatrics.
H. Bremer,
K. Gibson,
W. Nyhan,
2005,
European Journal of Pediatrics.
Ralf Hofestädt,
Thoralf Töpel,
Dagmar Scheible,
2010,
Human mutation.
H. Bremer,
E. Mayatepek,
G. Hoffmann,
1991,
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.