Works by Elpeleg, Orly

Results: 98

The Molecular Background of Glycogen Metabolism Disorders.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 3, p. 363, doi. 10.1515/jpem.1999.12.3.363

By:

Elpeleg, Orly N.

Publication type:

Article

Clinical Characteristics and Muscle Pathology in Myopathic Mitochondrial DNA Depletion.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 7, p. 499, doi. 10.1177/088307380201700705

By:

Nevo, Yoram;
Soffer, Dov;
Kutai, Miriam;
Zelnik, Nathanel;
Saada, Anne;
Jossiphov, Joseph;
Messer, Glenda;
Shaag, Avraham;
Shahar, Eli;
Harel, Shaul;
Elpeleg, Orly

Publication type:

Article

Holocarboxylase Synthetase Deficiency: A Treatable Metabolic Disorder Masquerading as Cerebral Palsy.

Published in:

Journal of Child Neurology, 1994, v. 9, n. 2, p. 170, doi. 10.1177/088307389400900213

By:

Livne, Mosheh;
Gibson, K. Michael;
Amir, Naomi;
Eshel, Gideon;
Elpeleg, Orly N.

Publication type:

Article

Correspondence.

Published in:

Journal of Child Neurology, 1991, v. 6, n. 1, p. 90, doi. 10.1177/088307389100600118

By:

Elpeleg, Orly N.;
Shalev, Ruth S.;
Mathews, Katherine D.;
Afifi, Adel

Publication type:

Article

West syndrome caused by ST3Gal-III deficiency.

Published in:

Epilepsia (Series 4), 2013, v. 54, n. 2, p. e24, doi. 10.1111/epi.12050

By:

Edvardson, Simon;
Baumann, Anna‐Maria;
Mühlenhoff, Martina;
Stephan, Oliver;
Kuss, Andreas W.;
Shaag, Avraham;
He, Liqun;
Zenvirt, Shamir;
Tanzi, Raimo;
Gerardy‐Schahn, Rita;
Elpeleg, Orly

Publication type:

Article

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1436, doi. 10.1111/j.1528-1167.2012.03536.x

By:

Berger, Itai;
Dor, Talya;
Halvardson, Jonatan;
Edvardson, Simon;
Shaag, Avraham;
Feuk, Lars;
Elpeleg, Orly

Publication type:

Article

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071

By:

Pagnamenta, Alistair T.;
Jackson, Adam;
Perveen, Rahat;
Beaman, Glenda;
Petts, Gemma;
Gupta, Asheeta;
Hyder, Zerin;
Chung, Brian Hon‐Yin;
Kan, Anita Sik‐Yau;
Cheung, Ka Wang;
Kerstjens‐Frederikse, Wilhelmina S.;
Abbott, Kristin M.;
Elpeleg, Orly;
Taylor, Jenny C.;
Banka, Siddharth;
Ta‐Shma, Asaf

Publication type:

Article

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 577, doi. 10.1111/cge.13920

By:

Mor‐Shaked, Hagar;
Salah, Somaya;
Yanovsky‐Dagan, Shira;
Meiner, Vardiella;
Atawneh, Osama M.;
Abu‐Libdeh, Bassam;
Elpeleg, Orly;
Harel, Tamar

Publication type:

Article

A human laterality disorder associated with a homozygous WDR16 deletion.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1262, doi. 10.1038/ejhg.2014.265

By:

Ta-Shma, Asaf;
Perles, Zeev;
Yaacov, Barak;
Werner, Marion;
Frumkin, Ayala;
Rein, Azaria JJT;
Elpeleg, Orly

Publication type:

Article

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 159, doi. 10.1038/ejhg.2014.85

By:

Abdulhag, Ulla Najwa;
Soiferman, Devorah;
Schueler-Furman, Ora;
Miller, Chaya;
Shaag, Avraham;
Elpeleg, Orly;
Edvardson, Simon;
Saada, Ann

Publication type:

Article

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1019, doi. 10.1038/ejhg.2013.284

By:

Spiegel, Ronen;
Mandel, Hanna;
Saada, Ann;
Lerer, Issy;
Burger, Ayala;
Shaag, Avraham;
Shalev, Stavit A;
Jabaly-Habib, Haneen;
Goldsher, Dorit;
Gomori, John M;
Lossos, Alex;
Elpeleg, Orly;
Meiner, Vardiella

Publication type:

Article

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269

By:

Spiegel, Ronen;
Saada, Ann;
Halvardson, Jonatan;
Soiferman, Devorah;
Shaag, Avraham;
Edvardson, Simon;
Horovitz, Yoseph;
Khayat, Morad;
Shalev, Stavit A;
Feuk, Lars;
Elpeleg, Orly

Publication type:

Article

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1200, doi. 10.1038/ejhg.2009.24

By:

Spiegel, Ronen;
Shaag, Avraham;
Mandel, Hanna;
Reich, Dan;
Penyakov, Marina;
Hujeirat, Yasir;
Saada, Ann;
Elpeleg, Orly;
Shalev, Stavit A.

Publication type:

Article

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01614-4

By:

Keller, Baerbel;
Kfir-Erenfeld, Shlomit;
Matusewicz, Paul;
Hartl, Frederike;
Lev, Atar;
Lee, Yu Nee;
Simon, Amos J.;
Stauber, Tali;
Elpeleg, Orly;
Somech, Raz;
Stepensky, Polina;
Minguet, Susana;
Schraven, Burkhart;
Warnatz, Klaus

Publication type:

Article

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Published in:

Nature Genetics, 2001, v. 29, n. 3, p. 337, doi. 10.1038/ng746

By:

Mandel, Hanna;
Szargel, Raymonde;
Labay, Valentina;
Elpeleg, Orly;
Saada, Ann;
Shalata, Adel;
Anbinder, Yefim;
Berkowitz, Drora;
Hartman, Corina;
Barak, Mila;
Eriksson, Staffan;
Cohen, Nadine

Publication type:

Article

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

Published in:

Nature Genetics, 2001, v. 29, n. 3, p. 342, doi. 10.1038/ng751

By:

Saada, Ann;
Shaag, Avraham;
Mandel, Hanna;
Nevo, Yoram;
Eriksson, Staffan;
Elpeleg, Orly

Publication type:

Article

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Published in:

2018

By:

Shamriz, Oded;
Shadur, Bella;
NaserEddin, Adeeb;
Zaidman, Irina;
Simanovsky, Natalia;
Elpeleg, Orly;
Kerem, Eitan;
Reiter, Joel;
Stepensky, Polina

Publication type:

journal article

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Published in:

2016

By:

Abdulhaq, Ulla Najwa;
Daana, Mohannad;
Dor, Talia;
Fellig, Yakov;
Eylon, Sharon;
Schuelke, Markus;
Shaag, Avraham;
Elpeleg, Orly;
Edvardson, Simon

Publication type:

journal article

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8079, doi. 10.3390/ijms23158079

By:

Dinoi, Giorgia;
Morin, Michael;
Conte, Elena;
Mor Shaked, Hagar;
Coppola, Maria Antonietta;
D'Adamo, Maria Cristina;
Elpeleg, Orly;
Liantonio, Antonella;
Hartmann, Inbar;
De Luca, Annamaria;
Blunck, Rikard;
Russo, Angelo;
Imbrici, Paola

Publication type:

Article

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2373, doi. 10.3390/ijms23042373

By:

Confino, Shir;
Dor, Talya;
Tovin, Adi;
Wexler, Yair;
Ben-Moshe Livne, Zohar;
Kolker, Michaela;
Pisanty, Odelia;
Park, Sohyun Kathy;
Geyer, Nathalie;
Reiter, Joel;
Edvardson, Shimon;
Mor-Shaked, Hagar;
Elpeleg, Orly;
Vallone, Daniela;
Appelbaum, Lior;
Foulkes, Nicholas S.;
Gothilf, Yoav

Publication type:

Article

Liver Disease in the Ashkenazi-Jewish Lipoamide Dehydrogenase Deficiency.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 1997, v. 24, n. 5, p. 1

By:

Aptowitzer, Iris;
Saada, Ann;
Faber, Joseph;
Kleid, David;
Elpeleg, Orly N.

Publication type:

Article

Iraqi-Jewish Kindreds with Optic Atrophy Plus (3-Methylglutaconic Aciduria Type 3) Demonstrate Linkage Disequilibrium with the CTG Repeat in the 3′ Untranslated Region of the Myotonic Dystrophy Protein Kinase Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 563, doi. 10.1093/hmg/6.4.563

By:

Nystuen, Arne;
Costeff, Hanan;
Elpeleg, Orly N.;
Apter, Naomi;
Bonné-Tamir, Batsheva;
Mohrenweiser, Harvey;
Haider, Neena;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

Published in:

Annals of Neurology, 2004, v. 56, n. 5, p. 734

By:

Chaya Miller;
Ann Saada;
Nava Shaul;
Naama Shabtai;
Efrat Ben‐Shalom;
Avraham Shaag;
Eli Hershkovitz;
Orly Elpeleg

Publication type:

Article

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.

Published in:

Annals of Neurology, 2002, v. 52, n. 6, p. 845, doi. 10.1002/ana.10406

By:

Elpeleg, Orly;
Shaag, Avraham;
Ben-Shalom, Efrat;
Schmid, Tal;
Bachmann, Claude

Publication type:

Article

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

Published in:

2001

By:

Loeffen, Jan;
Elpeleg, Orly;
Smeitink, Jan;
Smeets, Roel;
Stöckler-Ipsiroglu, Sylvia;
Mandel, Hanna;
Sengers, Rob;
Trijbels, Frans;
Van Den Heuvel, Lambert;
Loeffen, J;
Elpeleg, O;
Smeitink, J;
Smeets, R;
Stöckler-Ipsiroglu, S;
Mandel, H;
Sengers, R;
Trijbels, F;
van den Heuvel, L

Publication type:

journal article

3-Methylglutaconic aciduria in 'optic atrophy plus'.

Published in:

Annals of Neurology, 1993, v. 33, n. 1, p. 103, doi. 10.1002/ana.410330117

By:

Costeff, Hanan;
Elpeleg, Orly;
Apter, Naomi;
Divry, Priscille;
Gadoth, Natan

Publication type:

Article

Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover.

Published in:

EMBO Journal, 2025, v. 44, n. 6, p. 1608, doi. 10.1038/s44318-025-00366-8

By:

Etemad, Asieh;
Tanaka, Yosuke;
Wang, Shuo;
Slae, Mordechai;
Sultan, Mutaz;
Elpeleg, Orly;
Hirokawa, Nobutaka

Publication type:

Article

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Published in:

Neurogenetics, 2019, v. 20, n. 4, p. 209, doi. 10.1007/s10048-019-00583-4

By:

Abu-Libdeh, Bassam;
Ashhab, Motee;
Shahrour, Maher;
Daana, Muhannad;
Dudin, Anwar;
Elpeleg, Orly;
Edvardson, Simon;
Harel, Tamar

Publication type:

Article

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.

Published in:

Neurogenetics, 2018, v. 19, n. 4, p. 227, doi. 10.1007/s10048-018-0556-6

By:

Harel, Tamar;
Quek, Debra Q. Y.;
Wong, Bernice H.;
Cazenave-Gassiot, Amaury;
Wenk, Markus R.;
Fan, Hao;
Berger, Itai;
Shmueli, Dorit;
Shaag, Avraham;
Silver, David L.;
Elpeleg, Orly;
Edvardson, Shimon

Publication type:

Article

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 135, doi. 10.1007/s10048-017-0515-7

By:

Shahrour, Maher;
Ashhab, Motee;
Edvardson, Simon;
Gur, Michal;
Abu-Libdeh, Bassam;
Elpeleg, Orly

Publication type:

Article

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Published in:

2017

By:

Shahrour, Maher;
Nicolae, Claudia;
Edvardson, Simon;
Ashhab, Motee;
Galvan, Adri;
Constantin, Daniel;
Abu-Libdeh, Bassam;
Moldovan, George-Lucian;
Elpeleg, Orly

Publication type:

Erratum

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Published in:

2017

By:

Shahrour, Maher;
Nicolae, Claudia;
Edvardson, Simon;
Ashhab, Motee;
Galvan, Adri;
Constantin, Daniel;
Abu-Libdeh, Bassam;
Moldovan, George-Lucian;
Elpeleg, Orly

Publication type:

Erratum

Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 57, doi. 10.1007/s10048-016-0507-z

By:

Fattal-Valevski, Aviva;
Eliyahu, Hila;
Fraenkel, NItai;
Elmaliach, Ganit;
Hausman-Kedem, Moran;
Shaag, Avraham;
Mandel, Dror;
Pines, Ophry;
Elpeleg, Orly

Publication type:

Article

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 219, doi. 10.1007/s10048-016-0487-z

By:

Edvardson, Simon;
Elbaz-Alon, Yael;
Jalas, Chaim;
Matlock, Ashanti;
Patel, Krishna;
Labbé, Katherine;
Shaag, Avraham;
Jackman, Jane;
Elpeleg, Orly

Publication type:

Article

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 227, doi. 10.1007/s10048-016-0493-1

By:

Shahrour, Maher;
Nicolae, Claudia;
Edvardson, Simon;
Ashhab, Motee;
Galvan, Adri;
Constantin, Daniel;
Abu-Libdeh, Bassam;
Moldovan, George-Lucian;
Elpeleg, Orly

Publication type:

Article

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Published in:

Neurogenetics, 2016, v. 17, n. 3, p. 187, doi. 10.1007/s10048-016-0483-3

By:

Spiegel, Ronen;
Shaag, Avraham;
Shalev, Stavit;
Elpeleg, Orly

Publication type:

Article

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 25, doi. 10.1007/s10048-015-0464-y

By:

Edvardson, Simon;
Wang, Haibo;
Dor, Talya;
Atawneh, Osamah;
Yaacov, Barak;
Gartner, Jutta;
Cinnamon, Yuval;
Chen, Songhai;
Elpeleg, Orly

Publication type:

Article

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

Published in:

Neurogenetics, 2015, v. 16, n. 3, p. 215, doi. 10.1007/s10048-015-0446-0

By:

Damseh, Nadirah;
Danson, Chris;
Al-Ashhab, Motee;
Abu-Libdeh, Bassam;
Gallon, Matthew;
Sharma, Kanchan;
Yaacov, Barak;
Coulthard, Elizabeth;
Caldwell, Maeve;
Edvardson, Simon;
Cullen, Peter;
Elpeleg, Orly

Publication type:

Article

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 23, doi. 10.1007/s10048-014-0428-7

By:

Sheffer, Ruth;
Bennett-Back, Odeya;
Yaacov, Barak;
Edvardson, Simon;
Gomori, Moshe;
Werner, Marion;
Fahham, Duha;
Anteby, Irene;
Frumkin, Ayala;
Meiner, Vardiella;
Elpeleg, Orly

Publication type:

Article

OTULIN deficiency in ORAS causes cell type‐specific LUBAC degradation, dysregulated TNF signalling and cell death.

Published in:

EMBO Molecular Medicine, 2019, v. 11, n. 3, p. N.PAG, doi. 10.15252/emmm.201809324

By:

Damgaard, Rune Busk;
Elliott, Paul R;
Swatek, Kirby N;
Maher, Eamonn R;
Stepensky, Polina;
Elpeleg, Orly;
Komander, David;
Berkun, Yackov

Publication type:

Article

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1

By:

Ferdinandusse, Sacha;
Friederich, Marisa W.;
Burlina, Alberto;
Ruiter, Jos P. N.;
Coughlin II, Curtis R.;
Dishop, Megan K.;
Gallagher, Renata C.;
Bedoyan, Jirair K.;
Vaz, Frédéric M.;
Waterham, Hans R.;
Gowan, Katherine;
Chatfield, Kathryn;
Bloom, Kaitlyn;
Bennett, Michael J.;
Elpeleg, Orly;
Van Hove, Johan L. K.;
Wanders, Ronald J. A.

Publication type:

Article

Clinical and biochemical characterization of four patients with mutations in ECHS1

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1

By:

Ferdinandusse, Sacha;
Friederich, Marisa W.;
Burlina, Alberto;
Ruiter, Jos P. N.;
Coughlin II, Curtis R.;
Dishop, Megan K.;
Gallagher, Renata C.;
Bedoyan, Jirair K.;
Vaz, Frédéric M.;
Waterham, Hans R.;
Gowan, Katherine;
Chatfield, Kathryn;
Bloom, Kaitlyn;
Bennett, Michael J.;
Elpeleg, Orly;
Van Hove, Johan L. K.;
Wanders, Ronald J. A.

Publication type:

Article

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Published in:

2015

By:

Ferdinandusse, Sacha;
Friederich, Marisa W;
Burlina, Alberto;
Ruiter, Jos P N;
Coughlin 2nd, Curtis R;
Dishop, Megan K;
Gallagher, Renata C;
Bedoyan, Jirair K;
Vaz, Frédéric M;
Waterham, Hans R;
Gowan, Katherine;
Chatfield, Kathryn;
Bloom, Kaitlyn;
Bennett, Michael J;
Elpeleg, Orly;
Van Hove, Johan L K;
Wanders, Ronald J A;
Coughlin, Curtis R 2nd

Publication type:

journal article

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Published in:

2012

By:

Ohlenbusch, Andreas;
Edvardson, Simon;
Skorpen, Johannes;
Bjornstad, Alf;
Saada, Ann;
Elpeleg, Orly;
Gärtner, Jutta;
Brockmann, Knut

Publication type:

journal article

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 69, doi. 10.1186/1750-1172-7-69

By:

Ohlenbusch, Andreas;
Edvardson, Simon;
Skorpen, Johannes;
Bjornstad, Alf;
Saada, Ann;
Elpeleg, Orly;
Gärtner, Jutta;
Brockmann, Knut

Publication type:

Article

3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.

Published in:

1994

By:

Elpeleg, Orly N.;
Costeff, Hanan;
Joseph, Adina;
Shental, Yitzhak;
Weitz, Raphael;
Gibson, K. Michael;
Elpeleg, O N;
Costeff, H;
Joseph, A;
Shental, Y;
Weitz, R;
Gibson, K M

Publication type:

journal article

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 125, doi. 10.1007/s10545-011-9348-y

By:

Saada, Ann;
Edvardson, Shimon;
Shaag, Avraham;
Chung, Wendy;
Segel, Reeval;
Miller, Chaya;
Jalas, Chaim;
Elpeleg, Orly

Publication type:

Article

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth.

Published in:

2002

By:

Arnon, Shmuel;
Aviram, Rami;
Dolfin, Tzipora;
Regev, Rivka;
Litmanovits, Ita;
Tepper, Ronnie;
Elpeleg, Orly N.

Publication type:

journal article

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 80, doi. 10.1002/humu.9001

By:

Elpeleg, Orly N.;
Shaag, Avraham;
Holme, Elizabeth;
Zughayar, Ghaleb;
Ronen, Suzi;
Fisher, Drora;
Hurvitz, Haggit

Publication type:

Article

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 141, doi. 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K

By:

Goodman, Stephen I.;
Stein, Donna E.;
Schlesinger, Sudha;
Christensen, Ernst;
Schwartz, Marianne;
Greenberg, Cheryl R.;
Elpeleg, Orly N.

Publication type:

Article